GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

COL3A1 (collagen type III alpha 1 chain)

Gene

1281

Collagen type III alpha 1 chain

COL3A1

EDS4A, EDSVASC, PMGEDSV

2q32.2

This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Show/Hide all(418)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801183	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, missense variant
rs111391222	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, missense variant
rs111505097	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs111840783	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, missense variant
rs111929073	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs112371422	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs112456072	G>A	Pathogenic	Coding sequence variant, missense variant
rs112532745	G>T	Pathogenic	Splice donor variant
rs113304344	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs113485686	G>A	Pathogenic	Coding sequence variant, missense variant
rs113871730	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912913	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912914	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912915	G>T	Pathogenic	Coding sequence variant, missense variant
rs121912916	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912917	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121912918	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121912919	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912920	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912921	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912922	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912923	G>A,C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121912924	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912925	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912926	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs121912927	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs140646380	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs144614075	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs146652498	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Intron variant
rs147663769	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149722210	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs193922176	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs201314784	T>C	Likely-pathogenic	Splice donor variant
rs267599120	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs374452484	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs375737772	C>T	Pathogenic	Stop gained, coding sequence variant
rs397509369	G>A	Pathogenic	Coding sequence variant, missense variant
rs397509371	G>T	Pathogenic	Intron variant
rs397509372	G>A,T	Likely-pathogenic, pathogenic	Intron variant
rs397509373	G>A	Pathogenic	Splice donor variant
rs397509374	GGGTGAGAAAGGTGAAGGAGGCCCTCC>-	Pathogenic	Coding sequence variant, inframe deletion
rs397509375	T>A,C	Pathogenic	Intron variant
rs397509376	G>A,T	Pathogenic	Intron variant
rs397509377	->T	Pathogenic	Coding sequence variant, frameshift variant
rs553203474	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779416	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779417	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779418	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779419	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779420	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779421	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779422	G>A	Pathogenic	Intron variant
rs587779423	T>A,C,G	Pathogenic	Intron variant
rs587779424	G>A	Pathogenic	Splice donor variant
rs587779425	AGTGAGTATAGCTGC>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs587779426	T>A,C	Pathogenic	Splice donor variant
rs587779427	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779428	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779429	T>C	Pathogenic	Splice donor variant
rs587779431	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779432	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779433	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587779434	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779435	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779436	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779437	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779438	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587779439	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779440	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779441	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779442	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779443	G>A,T	Pathogenic	Splice donor variant
rs587779444	G>A,C,T	Pathogenic	Splice donor variant
rs587779445	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779446	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779447	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779448	G>A	Pathogenic	Intron variant
rs587779449	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779450	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779451	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779452	G>T	Pathogenic	Intron variant
rs587779454	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779455	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779456	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779457	G>A,T	Pathogenic	Intron variant
rs587779458	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779460	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779461	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs587779462	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779463	G>A	Pathogenic	Splice donor variant
rs587779464	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779465	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779466	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779467	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs587779468	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779469	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779470	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779471	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779472	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779473	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779474	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779475	ACCAGTAA>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs587779477	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779478	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779479	C>T	Pathogenic	Stop gained, coding sequence variant
rs587779480	G>A,C	Pathogenic	Splice donor variant
rs587779481	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779482	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779483	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779484	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779486	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779487	G>C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779488	G>T	Pathogenic	Stop gained, coding sequence variant
rs587779490	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779491	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779492	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779493	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779494	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779495	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587779497	T>A,G	Pathogenic	Splice donor variant
rs587779498	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587779499	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779501	G>A	Pathogenic	Intron variant
rs587779502	A>G,T	Pathogenic	Splice acceptor variant
rs587779503	T>C,G	Pathogenic	Splice donor variant
rs587779504	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779505	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779506	G>A	Pathogenic	Splice donor variant
rs587779507	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779508	G>C	Pathogenic	Splice donor variant
rs587779509	GCTCCCGGTCCTGCTGGT>-	Pathogenic	Inframe deletion, coding sequence variant
rs587779510	GTGCTCC>TAAG	Pathogenic	Coding sequence variant, inframe indel
rs587779511	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779512	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779513	T>C	Pathogenic	Splice donor variant
rs587779514	G>-	Pathogenic	Splice donor variant
rs587779515	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779516	G>A	Pathogenic	Splice donor variant
rs587779517	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779518	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779519	G>A	Pathogenic	Splice acceptor variant
rs587779521	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779522	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779524	->T	Pathogenic	Splice donor variant
rs587779525	AAAGAGGAGAACCTGGAC>-	Pathogenic	Inframe deletion, coding sequence variant
rs587779526	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779527	C>T	Pathogenic	Stop gained, coding sequence variant
rs587779528	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779529	TTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs587779530	T>C,G	Pathogenic	Splice donor variant
rs587779531	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779532	T>C	Pathogenic	Intron variant
rs587779533	G>C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587779536	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779538	G>A	Pathogenic	Intron variant
rs587779539	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779540	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779541	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779542	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779543	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779544	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779545	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779546	A>C	Pathogenic	Splice acceptor variant
rs587779547	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779548	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779549	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779550	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779551	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779552	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779553	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs587779554	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779555	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779556	G>C	Pathogenic	Splice acceptor variant
rs587779557	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779558	A>G	Pathogenic	Splice acceptor variant
rs587779559	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779560	CCTCCTGGGCCACCTGGTGCTGCTGGT>-	Pathogenic	Inframe deletion, coding sequence variant
rs587779561	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587779562	G>T	Pathogenic	Splice acceptor variant
rs587779563	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779564	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779565	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs587779566	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779567	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779568	G>A	Pathogenic	Intron variant
rs587779569	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779570	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779571	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779572	->T	Pathogenic	Splice donor variant
rs587779573	G>A,C	Pathogenic	Splice donor variant
rs587779574	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779575	A>G,T	Pathogenic	Splice acceptor variant
rs587779576	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779577	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779578	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779579	->ACCCTGCAG	Pathogenic	Inframe insertion, coding sequence variant
rs587779580	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779581	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779582	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779583	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779585	C>T	Pathogenic	Stop gained, coding sequence variant
rs587779587	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779588	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779589	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779590	TAGTAATGTAAGTA>GACCTGAGAC	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs587779591	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779592	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779593	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779594	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779595	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779596	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779597	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779598	A>T	Pathogenic	Intron variant
rs587779599	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779600	G>C	Pathogenic	Splice donor variant
rs587779601	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779602	A>G	Pathogenic	Splice acceptor variant
rs587779603	T>G	Pathogenic	Splice donor variant
rs587779604	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779605	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779606	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs587779607	C>T	Pathogenic	Stop gained, coding sequence variant
rs587779608	->T	Pathogenic	Stop gained, coding sequence variant
rs587779609	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs587779610	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779611	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779613	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779614	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779615	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779616	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs587779617	G>A	Pathogenic	Splice acceptor variant
rs587779618	T>C	Pathogenic	Stop lost, terminator codon variant
rs587779619	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779620	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779622	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779623	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779624	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779625	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587779626	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779627	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779628	->ACCTGGGCAAGCTGG	Pathogenic	Inframe insertion, coding sequence variant
rs587779629	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779630	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779634	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779635	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779638	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779639	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779640	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs587779641	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779642	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779643	G>A,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs587779644	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779645	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779646	C>T	Pathogenic	Stop gained, coding sequence variant
rs587779647	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779648	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779649	T>A	Pathogenic	Splice donor variant
rs587779650	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779651	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779652	G>A	Pathogenic, not-provided	Splice donor variant
rs587779653	->C	Pathogenic	Coding sequence variant, frameshift variant
rs587779654	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779655	GCTCGGGGTAATGACGGTGC>TTTACATCGAGGGTTTTAAAGTTTACA	Pathogenic	Coding sequence variant, frameshift variant
rs587779656	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779657	GCCACCTGGTGCTGCTGGTACTCCTGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs587779658	A>T	Pathogenic	Missense variant, coding sequence variant
rs587779659	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779660	G>A	Pathogenic	Splice donor variant
rs587779661	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779662	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779663	G>A	Pathogenic	Splice donor variant
rs587779664	G>A,C	Pathogenic	Splice donor variant
rs587779666	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779668	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779669	GC>AA	Pathogenic	Missense variant, coding sequence variant
rs587779670	A>C,G	Pathogenic	Intron variant
rs587779671	G>A,T	Pathogenic, likely-pathogenic	Intron variant
rs587779672	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779673	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587779674	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779675	G>C	Pathogenic	Splice donor variant
rs587779676	G>A	Pathogenic	Splice donor variant
rs587779678	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779680	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779681	CCTTCAGTAAGT>TACTAAATATA	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs587779682	A>G	Likely-pathogenic	Splice acceptor variant
rs587779683	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587779684	T>C	Pathogenic	Splice donor variant
rs587779685	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779686	GAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs587779687	G>C	Pathogenic	Splice acceptor variant
rs587779688	G>A	Pathogenic	Intron variant
rs587779689	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779690	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779691	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587779694	G>C	Pathogenic	Missense variant, coding sequence variant
rs587779695	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779696	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779697	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779698	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779699	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779700	TCCCAGGGTC>-	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs587779703	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779704	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs587779705	G>C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779706	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587779708	G>A,T	Pathogenic	Splice acceptor variant
rs587779709	G>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs587779710	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779711	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779712	->AGGG	Pathogenic	Coding sequence variant, frameshift variant
rs587779713	A>G,T	Pathogenic	Intron variant
rs587779714	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779715	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587779716	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779717	G>T	Pathogenic	Missense variant, coding sequence variant
rs587779718	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779719	TT>-	Pathogenic	Stop gained, coding sequence variant
rs587779720	G>A	Pathogenic	Missense variant, coding sequence variant
rs587779722	A>G	Pathogenic	Splice acceptor variant
rs587779723	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs746358771	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs755528878	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs766750333	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs771654029	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs772827388	->CT	Pathogenic	Frameshift variant, coding sequence variant
rs776819930	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs777361888	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs779774302	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs786200946	TAAG>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs794727586	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs794728038	G>A,C	Likely-pathogenic, uncertain-significance	Intron variant
rs794728039	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794728040	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs794728049	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728050	A>G	Pathogenic	Splice acceptor variant
rs794728051	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794728054	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794728055	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794728057	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs794728059	GGGTCAAATG>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728060	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs863224860	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs869312034	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs878853651	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886038892	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886038920	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs886038925	GT>AA	Pathogenic	Coding sequence variant, missense variant
rs886055332	A>C,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1057518372	G>A	Pathogenic	Splice donor variant
rs1057521106	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1057521930	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057523593	A>C	Likely-pathogenic	Splice acceptor variant
rs1060500187	G>A	Pathogenic	Coding sequence variant, stop gained
rs1060500193	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1060500203	G>T	Pathogenic	Missense variant, coding sequence variant
rs1064796468	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796733	G>C	Likely-pathogenic	Splice acceptor variant
rs1085307896	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307964	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1173194734	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1333421028	C>T	Pathogenic	Stop gained, coding sequence variant
rs1393544920	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553507180	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553507249	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553507265	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553507274	G>T	Pathogenic	Coding sequence variant, missense variant
rs1553507345	GC>AA	Likely-pathogenic	Coding sequence variant, missense variant
rs1553507557	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553507574	A>G	Likely-pathogenic	Splice acceptor variant
rs1553507614	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553507793	->TA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553508231	GAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553508238	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553508338	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553508473	G>A	Risk-factor	Coding sequence variant, missense variant
rs1553508544	G>A,C	Uncertain-significance, likely-pathogenic	Intron variant
rs1553508957	A>C	Pathogenic	Splice acceptor variant
rs1553509187	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553509208	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553509391	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553509397	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553509404	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553509430	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553509630	AG>-	Pathogenic	Intron variant
rs1553509726	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553509744	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553509869	GAAGAAA>TT	Pathogenic	Frameshift variant, coding sequence variant
rs1553509934	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553510000	G>T	Pathogenic	Stop gained, coding sequence variant
rs1559053784	GTATAGC>ACA	Pathogenic	Intron variant
rs1559054653	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1559055162	AG>-	Pathogenic	Intron variant
rs1559057346	AG>-	Pathogenic	Intron variant
rs1559058482	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559058551	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559058970	G>A	Likely-pathogenic	Splice donor variant
rs1559059873	CAGGGTG>-	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1559060412	C>T	Pathogenic	Stop gained, coding sequence variant
rs1559061242	GG>AC	Pathogenic	Coding sequence variant, missense variant
rs1559061674	TTGTTCACAGG>GT	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1559061706	G>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1559061954	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1559063681	A>G	Likely-pathogenic	Splice acceptor variant
rs1576463100	A>G	Pathogenic	Splice acceptor variant
rs1576463632	G>A	Pathogenic	Coding sequence variant, missense variant
rs1576463663	G>T	Pathogenic	Coding sequence variant, missense variant
rs1576467133	GGGAC>AG	Likely-pathogenic	Inframe indel, coding sequence variant
rs1576467144	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1576467391	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576468160	AGGGGC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1576468332	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1576468385	G>A	Likely-pathogenic	Splice donor variant
rs1576468562	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1576470032	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1576471840	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1576472890	CTCCTGGCAAAGATGGAACCAGTGGAC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1576473641	G>T	Likely-pathogenic	Splice donor variant

Show/Hide all(17)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000927	hsa-miR-29c-3p	Luciferase reporter assay, Reporter assay;Other	18390668
MIRT000927	hsa-miR-29c-3p	Luciferase reporter assay	22745231
MIRT000927	hsa-miR-29c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR, Western blot	26453978
MIRT005567	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	20657750
MIRT005567	hsa-miR-29b-3p	Microarray	22942087
MIRT005567	hsa-miR-29b-3p	Luciferase reporter assay	22745231
MIRT005567	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT018299	hsa-miR-335-5p	Microarray	18185580
MIRT028683	hsa-miR-29a-3p	Luciferase reporter assay	22745231
MIRT028683	hsa-miR-29a-3p	Next Generation Sequencing (NGS), qRT-PCR, Western blot	26199111
MIRT037808	hsa-miR-455-3p	CLASH	23622248
MIRT054120	hsa-let-7b-5p	Luciferase reporter assay, Microarray, qRT-PCR	22995917
MIRT437563	hsa-miR-767-5p	Luciferase reporter assay	22745231
MIRT438362	hsa-miR-143-3p	In situ hybridization, qRT-PCR, Western blot	24283360
MIRT734149	hsa-miR-29b-1-5p	Luciferase reporter assay, qRT-PCR	25827718
MIRT734638	hsa-let-7d-5p	ELISA, Immunohistochemistry, qRT-PCR, Western blot	25193015
MIRT734764	hsa-miR-29a-5p	Flow, Immunohistochemistry, qRT-PCR, Western blot	25786138

Show/Hide all(46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0002020	Function	Protease binding	IPI	19932771
GO:0005178	Function	Integrin binding	IMP	9573018
GO:0005178	Function	Integrin binding	NAS	14970208
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005201	Function	Extracellular matrix structural constituent	IMP	7487954, 9036918
GO:0005515	Function	Protein binding	IPI	2839553, 16754721, 16912226, 20015075, 28258187
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	TAS
GO:0005586	Component	Collagen type III trimer	IDA	19932771
GO:0005586	Component	Collagen type III trimer	IMP	7487954, 17576241
GO:0005586	Component	Collagen type III trimer	NAS	1672129
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	7487954
GO:0005615	Component	Extracellular space	NAS	9036918
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007160	Process	Cell-matrix adhesion	IDA	16912226
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	16360482
GO:0007229	Process	Integrin-mediated signaling pathway	IMP	14970208
GO:0007507	Process	Heart development	IMP	7546986
GO:0009314	Process	Response to radiation	IDA	14736764
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0018149	Process	Peptide cross-linking	IDA	16754721
GO:0021987	Process	Cerebral cortex development	ISS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231, 27559042, 28327460, 28675934
GO:0030168	Process	Platelet activation	NAS	9573018
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0030199	Process	Collagen fibril organization	IMP	7546986, 9036918
GO:0030199	Process	Collagen fibril organization	NAS	1672129
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0034097	Process	Response to cytokine	IDA	9076960, 16360482
GO:0035025	Process	Positive regulation of Rho protein signal transduction	ISS
GO:0042060	Process	Wound healing	IDA	1466622
GO:0042060	Process	Wound healing	NAS	14736764
GO:0043588	Process	Skin development	IMP	9036918
GO:0046872	Function	Metal ion binding	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0050776	Process	Regulation of immune response	TAS
GO:0050777	Process	Negative regulation of immune response	IMP	16754721
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 27559042, 28327460, 28344315, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	IMP	7487954, 14970208
GO:0062023	Component	Collagen-containing extracellular matrix	TAS	22261194
GO:0097435	Process	Supramolecular fiber organization	IMP	14970208
GO:2001223	Process	Negative regulation of neuron migration	ISS

MIM	HGNC	e!Ensembl
120180	2201	ENSG00000168542

Protein

UniProt ID

P02461

Protein name

Collagen alpha-1(III) chain

Protein function

Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.

PDB

2V53 , 3DMW , 4AE2 , 4AEJ , 4AK3 , 4GYX , 6FZV , 6FZW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00093	VWC	32 → 88	von Willebrand factor type C domain	Family
PF01391	Collagen	167 → 233	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	294 → 368	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	354 → 413	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	474 → 533	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	533 → 593	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	954 → 1026	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1077 → 1136	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1137 → 1196	Collagen triple helix repeat (20 copies)	Repeat
PF01410	COLFI	1230 → 1465	Fibrillar collagen C-terminal domain	Family

Sequence

MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSV
LCDDIICDDQELDCPNPEIPFGECCAVCPQPPTAPTRPPNGQGPQGPKGDPGPPGIPGRN
GDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPG
PPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSGPAGKDGESGRPGRPG
ERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKGETGAPGLKGENGLPGENGAPGPMG
PRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPG
SNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMGPAGIPGAPGLMGARGPPGPAG
ANGAPGLRGGAGEPGKNGAKGEPGPRGERGEAGIPGVPGAKGEDGKDGSPGEPGANGLPG
AAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPG
SPGGPGSDGKPGPPGSQGESGRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPG
GPGPQGPPGKNGETGPQGPPGPTGPGGDKGDTGPPGPQGLQGLPGTGGPPGENGKPGEPG
PKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAG
TPGLQGMPGERGGLGSPGPKGDKGEPGGPGADGVPGKDGPRGPTGPIGPPGPAGQPGDKG
EGGAPGLPGIAGPRGSPGERGETGPPGPAGFPGAPGQNGEPGGKGERGAPGEKGEGGPPG
VAGPPGGSGPAGPPGPQGVKGERGSPGGPGAAGFPGARGLPGPPGSNGNPGPPGPSGSPG
KDGPPGPAGNTGAPGSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAG
PPGMPGPRGSPGPQGVKGESGKPGANGLSGERGPPGPQGLPGLAGTAGEPGRDGNPGSDG
LPGRDGSPGGKGDRGENGSPGAPGAPGHPGPPGPVGPAGKSGDRGESGPAGPAGAPGPAG
SRGAPGPQGPRGDKGETGERGAAGIKGHRGFPGNPGAPGSPGPAGQQGAIGSPGPAGPRG
PVGPSGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGV
GAAAIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPAR
NCRDLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSS
AEKKHVWFGESMDGGFQFSYGNPELPEDVLDVHLAFLRLLSSRASQNITYHCKNSIAYMD
QASGNVKKALKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKAVRLP
IVDIAPYDIGGPDQEFGVDVGPVCFL

Sequence length

1466

Interactions

View interactions

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412