VWF (von Willebrand factor)

Gene

• Entrez ID: 7450
• Gene name: Von Willebrand factor
• Gene symbol: VWF
• Synonyms: F8VWF, VWD
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800379	A>G,T	Benign, pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs1800382	C>A,T	Benign, likely-pathogenic, likely-benign	Coding sequence variant, missense variant
rs1800386	T>C	Conflicting-interpretations-of-pathogenicity, risk-factor, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs2363337	C>T	Not-provided, pathogenic	Splice donor variant
rs41276736	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs41276738	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61748467	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61748477	G>A	Likely-pathogenic, not-provided, pathogenic	Missense variant, coding sequence variant
rs61748478	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61748480	C>G	Not-provided, likely-pathogenic	Splice acceptor variant
rs61748481	C>-	Not-provided, likely-pathogenic	Frameshift variant, coding sequence variant
rs61748497	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61748511	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749364	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749370	G>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61749372	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749380	G>A,C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749384	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61749385	C>A,G,T	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749387	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs61749389	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749392	C>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749393	C>A,G	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61749395	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs61749397	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs61749398	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749403	C>A,G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61749407	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61749408	A>G	Not-provided, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs61750069	A>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750070	A>C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750071	G>A,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750072	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61750074	G>A	Pathogenic	Missense variant, coding sequence variant
rs61750077	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs61750081	A>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750084	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs61750089	G>A,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750095	C>-,CC	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs61750097	A>C,G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750100	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs61750101	A>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750117	G>A,C,T	Likely-pathogenic, not-provided, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs61750577	C>A,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750579	A>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750581	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750584	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61750595	G>A,T	Not-provided, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs61750601	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs61750603	A>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs61750604	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs61750605	A>G	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750610	G>C,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61750612	G>A,T	Not-provided, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs61750624	C>A	Not-provided, likely-pathogenic	Splice donor variant
rs61750630	C>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61751286	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs61751288	G>A	Not-provided, likely-pathogenic	Stop gained, coding sequence variant
rs61751296	G>A	Pathogenic	Stop gained, coding sequence variant
rs61753992	C>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61753994	A>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs61754002	G>T	Not-provided, pathogenic	Stop gained, coding sequence variant
rs61754010	T>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61754011	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61754019	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs62643630	C>A	Not-provided, pathogenic	Missense variant, coding sequence variant
rs62643632	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs62643634	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs63749067	GAGGGCAGGGCAGGCGCACTCCAG>-	Not-provided, likely-pathogenic	Coding sequence variant, inframe deletion
rs111597150	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs121964894	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs121964895	C>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs139845585	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs139864572	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs141649383	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs143054357	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs144072210	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs147924974	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs149834874	C>A,G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607321	C>G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267607325	A>C	Pathogenic	Missense variant, coding sequence variant
rs267607326	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs267607328	G>A	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267607334	A>C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267607340	ACGTGGATG>-	Likely-pathogenic, not-provided	Inframe deletion, coding sequence variant
rs267607347	C>T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs267607353	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs267607364	->CT	Likely-pathogenic, not-provided	Frameshift variant, coding sequence variant
rs267607366	C>A,G	Likely-pathogenic, not-provided	Splice acceptor variant
rs369669154	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs369970893	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs370854023	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs373787920	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs377196768	G>T	Likely-pathogenic, uncertain-significance, pathogenic	Intron variant
rs569962285	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs746457842	C>T	Likely-pathogenic	Splice acceptor variant
rs746482504	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs751286556	->A	Pathogenic	Coding sequence variant, frameshift variant
rs761288966	G>A,C	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs762105711	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs772203447	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs780538558	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs900907976	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1555194979	A>T	Pathogenic	Missense variant, coding sequence variant
rs1555198839	C>A	Pathogenic	Splice donor variant
rs1565832072	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1565832211	G>A	Pathogenic	Stop gained, coding sequence variant
rs1591834850	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591836930	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591838031	G>T	Likely-pathogenic	Intron variant
rs1591838792	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1591838814	TCCTCCATGTCGGTGCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1591838833	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591838900	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591841452	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1591848387	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591857613	AAAGCACTGCCCCTTTGACGCTGCCCTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTAGGGCACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGGTCTGGCAAGGTCCAGACGTCCCCGGGCTGCAGAAGAAAACAGCAGATTCAGGC	Pathogenic	Intron variant, splice donor variant, splice acceptor variant, coding sequence variant
rs1591858979	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591862022	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1591862342	GGT>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1591862366	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1591863294	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1591865026	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591865617	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs1591866220	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591870340	C>T	Pathogenic	Stop gained, coding sequence variant
rs1591874316	->CAAA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591886521	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591890769	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1591895308	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591895879	A>G	Likely-pathogenic	Splice donor variant
rs1591914708	TCCAGAAATCACACACCATCCAGGTGCACCCAGGCCAGTCCACACCCACCTTCTGCATTTCCCCAGAGGAGATGTTGCATGAGCTGCTGGGAGGAGATGCCCGTTCACACCACTGTTCTCCACTGCTCAGAGCCCATGAGTTGGCAAAGTCATAAGGGTCCGAGGTCAAGGTCCCTGTGGAGGAAAGTTTCAGGAAAGTAATGCTTCAGTTATGCCTGTCCCAGA>-	Likely-pathogenic	Intron variant, splice donor variant, splice acceptor variant, coding sequence variant
rs1591924188	TAAAAAGCATGGCCACACTTTAGGGAAATGGTATCCCAGAACATCTTACCTTCTTGGGTCATAAAGTCATCTTCAGCAAAGATGTTAAAGTTGCCACACAGCCCGCAGGTCTTGTTGAAGTATCTGTCTGACAGCAGGACTTGAAAGTTGCCGCTGCCATCGATCCTGGCCACAAAGCCATAGGCCTCACCGGACAGCTTGTAGTACCCAGCCTCAGTTTCTAGATACAGCCCTTTGGAGGCATAGGGCATGGAG	Pathogenic	Intron variant, splice donor variant, splice acceptor variant, coding sequence variant
rs1591924208	TTAGGGAAATGGTATCCCAGAACATCTTACCTTCTTGGGTCATAAAGTCATCTTCAGCAAAGATGTTAAAGTTGCCACACAGCCCGCAGGTCTTGTTGAAGTATCTGTCTGACAGCAGGACTTGAAAGTTGCCGCTGCCATCGATCCTGGCCACAAAGCCATAGGCCTCACCGGACAGCTTGTAGTACCCAGCCTCAGTTTCTAGATACAGCCCTTTGGAGGCATAGGGCATGGAGACTCTGGAGGGCAAAGGCT	Likely-pathogenic	Intron variant, splice donor variant, splice acceptor variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1488361	hsa-miR-2467-3p	CLIP-seq
MIRT1488362	hsa-miR-3169	CLIP-seq
MIRT1488363	hsa-miR-3678-3p	CLIP-seq
MIRT1488364	hsa-miR-4515	CLIP-seq
MIRT1488365	hsa-miR-885-3p	CLIP-seq
MIRT2147040	hsa-miR-2278	CLIP-seq
MIRT1488361	hsa-miR-2467-3p	CLIP-seq
MIRT1488362	hsa-miR-3169	CLIP-seq
MIRT1488363	hsa-miR-3678-3p	CLIP-seq
MIRT2147041	hsa-miR-4468	CLIP-seq
MIRT1488364	hsa-miR-4515	CLIP-seq
MIRT1488365	hsa-miR-885-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ERG	Activation	22235125
ERG	Unknown	19359602;9444957
ETS1	Unknown	9444957
ETS2	Unknown	9444957
GATA6	Unknown	12511565
NFIC	Unknown	11895773
NFIL3	Unknown	15498853
NFKB1	Unknown	10848823
POU2F1	Activation	7507210
POU2F1	Repression	9694713
RELA	Unknown	10848823
YY1	Unknown	11522021

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IDA	15824096
GO:0002020	Function	Protease binding	IPI	12775718
GO:0002576	Process	Platelet degranulation	TAS
GO:0005178	Function	Integrin binding	IPI	9079671
GO:0005201	Function	Extracellular matrix structural constituent	RCA	23979707, 25037231, 28675934
GO:0005515	Function	Protein binding	IPI	2839553, 7756647, 8562925, 11943773, 12183630, 15039442, 16221672, 16912226, 18492805, 23414517, 25512528
GO:0005518	Function	Collagen binding	IDA	2056120
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IDA	10887119
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	6754744
GO:0007155	Process	Cell adhesion	IDA	10764791
GO:0007596	Process	Blood coagulation	IBA	21873635
GO:0007596	Process	Blood coagulation	IMP	16409464
GO:0007596	Process	Blood coagulation	TAS
GO:0007597	Process	Blood coagulation, intrinsic pathway	TAS
GO:0007599	Process	Hemostasis	IMP	10887119
GO:0009611	Process	Response to wounding	TAS	15029268
GO:0019865	Function	Immunoglobulin binding	IDA	3121636
GO:0030168	Process	Platelet activation	IDA	8565074
GO:0030168	Process	Platelet activation	NAS	12871509
GO:0030168	Process	Platelet activation	TAS
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0031091	Component	Platelet alpha granule	NAS	9759493
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031589	Process	Cell-substrate adhesion	IBA	21873635
GO:0031589	Process	Cell-substrate adhesion	IDA	9079671
GO:0033093	Component	Weibel-Palade body	IDA	3082891, 3087627
GO:0042802	Function	Identical protein binding	IPI	10887119, 16409464, 17895385, 18182488, 18492805, 21857647
GO:0047485	Function	Protein N-terminus binding	IPI	7721887
GO:0051087	Function	Chaperone binding	IDA	10887119
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23979707, 25037231, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	IDA	6754744
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 613160
• HGNC: 12726
• e!Ensembl: ENSG00000110799

Protein

• UniProt ID: P04275
• Protein name: von Willebrand factor (vWF) [Cleaved into: von Willebrand antigen 2 (von Willebrand antigen II)]
• Protein function: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a c
• PDB: 1AO3, 1ATZ, 1AUQ, 1FE8, 1FNS, 1IJB, 1IJK, 1M10, 1OAK, 1SQ0, 1U0N, 1UEX, 2ADF, 2MHP, 2MHQ, 3GXB, 3HXO, 3HXQ, 3PPV, 3PPW, 3PPX, 3PPY, 3ZQK, 4C29, 4C2A, 4C2B, 4DMU, 4NT5, 5BV8, 6FWN, 6N29, 7EOW, 7F49, 7KWO, 7P4N, 7PMV, 7PNF, 7ZWH, 8D3C, 8D3D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00094	VWD	35 → 179	von Willebrand factor type D domain	Family
  PF08742	C8	224 → 291	C8 domain	Domain
  PF01826	TIL	295 → 348	Trypsin Inhibitor like cysteine rich domain	Domain
  PF00094	VWD	388 → 541	von Willebrand factor type D domain	Family
  PF08742	C8	583 → 648	C8 domain	Domain
  PF01826	TIL	652 → 707	Trypsin Inhibitor like cysteine rich domain	Domain
  PF01826	TIL	776 → 827	Trypsin Inhibitor like cysteine rich domain	Domain
  PF00094	VWD	867 → 1013	von Willebrand factor type D domain	Family
  PF08742	C8	1059 → 1126	C8 domain	Domain
  PF01826	TIL	1141 → 1196	Trypsin Inhibitor like cysteine rich domain	Domain
  PF16164	VWA_N2	1198 → 1276	VWA N-terminal	Family
  PF00092	VWA	1277 → 1452	von Willebrand factor type A domain	Domain
  PF00092	VWA	1498 → 1660	von Willebrand factor type A domain	Domain
  PF00092	VWA	1691 → 1862	von Willebrand factor type A domain	Domain
  PF00094	VWD	1950 → 2102	von Willebrand factor type D domain	Family
  PF08742	C8	2138 → 2199	C8 domain	Domain
  PF00093	VWC	2257 → 2327	von Willebrand factor type C domain	Family
  PF00093	VWC	2431 → 2494	von Willebrand factor type C domain	Family
  PF00093	VWC	2582 → 2644	von Willebrand factor type C domain	Family

• Sequence:

  MIPARFAGVLLALALILPGTLCAEGTRGRSSTARCSLFGSDFVNTFDGSMYSFAGYCSYL
  LAGGCQKRSFSIIGDFQNGKRVSLSVYLGEFFDIHLFVNGTVTQGDQRVSMPYASKGLYL
  ETEAGYYKLSGEAYGFVARIDGSGNFQVLLSDRYFNKTCGLCGNFNIFAEDDFMTQEGTL
  TSDPYDFANSWALSSGEQWCERASPPSSSCNISSGEMQKGLWEQCQLLKSTSVFARCHPL
  VDPEPFVALCEKTLCECAGGLECACPALLEYARTCAQEGMVLYGWTDHSACSPVCPAGME
  YRQCVSPCARTCQSLHINEMCQERCVDGCSCPEGQLLDEGLCVESTECPCVHSGKRYPPG
  TSLSRDCNTCICRNSQWICSNEECPGECLVTGQSHFKSFDNRYFTFSGICQYLLARDCQD
  HSFSIVIETVQCADDRDAVCTRSVTVRLPGLHNSLVKLKHGAGVAMDGQDVQLPLLKGDL
  RIQHTVTASVRLSYGEDLQMDWDGRGRLLVKLSPVYAGKTCGLCGNYNGNQGDDFLTPSG
  LAEPRVEDFGNAWKLHGDCQDLQKQHSDPCALNPRMTRFSEEACAVLTSPTFEACHRAVS
  PLPYLRNCRYDVCSCSDGRECLCGALASYAAACAGRGVRVAWREPGRCELNCPKGQVYLQ
  CGTPCNLTCRSLSYPDEECNEACLEGCFCPPGLYMDERGDCVPKAQCPCYYDGEIFQPED
  IFSDHHTMCYCEDGFMHCTMSGVPGSLLPDAVLSSPLSHRSKRSLSCRPPMVKLVCPADN
  LRAEGLECTKTCQNYDLECMSMGCVSGCLCPPGMVRHENRCVALERCPCFHQGKEYAPGE
  TVKIGCNTCVCQDRKWNCTDHVCDATCSTIGMAHYLTFDGLKYLFPGECQYVLVQDYCGS
  NPGTFRILVGNKGCSHPSVKCKKRVTILVEGGEIELFDGEVNVKRPMKDETHFEVVESGR
  YIILLLGKALSVVWDRHLSISVVLKQTYQEKVCGLCGNFDGIQNNDLTSSNLQVEEDPVD
  FGNSWKVSSQCADTRKVPLDSSPATCHNNIMKQTMVDSSCRILTSDVFQDCNKLVDPEPY
  LDVCIYDTCSCESIGDCACFCDTIAAYAHVCAQHGKVVTWRTATLCPQSCEERNLRENGY
  ECEWRYNSCAPACQVTCQHPEPLACPVQCVEGCHAHCPPGKILDELLQTCVDPEDCPVCE
  VAGRRFASGKKVTLNPSDPEHCQICHCDVVNLTCEACQEPGGLVVPPTDAPVSPTTLYVE
  DISEPPLHDFYCSRLLDLVFLLDGSSRLSEAEFEVLKAFVVDMMERLRISQKWVRVAVVE
  YHDGSHAYIGLKDRKRPSELRRIASQVKYAGSQVASTSEVLKYTLFQIFSKIDRPEASRI
  TLLLMASQEPQRMSRNFVRYVQGLKKKKVIVIPVGIGPHANLKQIRLIEKQAPENKAFVL
  SSVDELEQQRDEIVSYLCDLAPEAPPPTLPPDMAQVTVGPGLLGVSTLGPKRNSMVLDVA
  FVLEGSDKIGEADFNRSKEFMEEVIQRMDVGQDSIHVTVLQYSYMVTVEYPFSEAQSKGD
  ILQRVREIRYQGGNRTNTGLALRYLSDHSFLVSQGDREQAPNLVYMVTGNPASDEIKRLP
  GDIQVVPIGVGPNANVQELERIGWPNAPILIQDFETLPREAPDLVLQRCCSGEGLQIPTL
  SPAPDCSQPLDVILLLDGSSSFPASYFDEMKSFAKAFISKANIGPRLTQVSVLQYGSITT
  IDVPWNVVPEKAHLLSLVDVMQREGGPSQIGDALGFAVRYLTSEMHGARPGASKAVVILV
  TDVSVDSVDAAADAARSNRVTVFPIGIGDRYDAAQLRILAGPAGDSNVVKLQRIEDLPTM
  VTLGNSFLHKLCSGFVRICMDEDGNEKRPGDVWTLPDQCHTVTCQPDGQTLLKSHRVNCD
  RGLRPSCPNSQSPVKVEETCGCRWTCPCVCTGSSTRHIVTFDGQNFKLTGSCSYVLFQNK
  EQDLEVILHNGACSPGARQGCMKSIEVKHSALSVELHSDMEVTVNGRLVSVPYVGGNMEV
  NVYGAIMHEVRFNHLGHIFTFTPQNNEFQLQLSPKTFASKTYGLCGICDENGANDFMLRD
  GTVTTDWKTLVQEWTVQRPGQTCQPILEEQCLVPDSSHCQVLLLPLFAECHKVLAPATFY
  AICQQDSCHQEQVCEVIASYAHLCRTNGVCVDWRTPDFCAMSCPPSLVYNHCEHGCPRHC
  DGNVSSCGDHPSEGCFCPPDKVMLEGSCVPEEACTQCIGEDGVQHQFLEAWVPDHQPCQI
  CTCLSGRKVNCTTQPCPTAKAPTCGLCEVARLRQNADQCCPEYECVCDPVSCDLPPVPHC
  ERGLQPTLTNPGECRPNFTCACRKEECKRVSPPSCPPHRLPTLRKTQCCDEYECACNCVN
  STVSCPLGYLASTATNDCGCTTTTCLPDKVCVHRSTIYPVGQFWEEGCDVCTCTDMEDAV
  MGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQ
  WASPENPCLINECVRVKEEVFIQQRNVSCPQLEVPVCPSGFQLSCKTSACCPSCRCERME
  ACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENNTGEC
  CGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHK
  CLAEGGKIMKIPGTCCDTCEEPECNDITARLQYVKVGSCKSEVEVDIHYCQGKCASKAMY
  SIDINDVQDQCSCCSPTRTEPMQVALHCTNGSVVYHEVLNAMECKCSPRKCSK

• Sequence length: 2813

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Complement and coagulation cascades
Platelet activation
Neutrophil extracellular trap formation
Human papillomavirus infection
Coronavirus disease - COVID-19

Reactome:

Platelet degranulation
Intrinsic Pathway of Fibrin Clot Formation
Integrin cell surface interactions
Integrin signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
GP1b-IX-V activation signalling
MAP2K and MAPK activation
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Platelet Adhesion to exposed collagen
Platelet Aggregation (Plug Formation)
Signaling downstream of RAS mutants

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	17890461
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Hypertension	Hypertensive disease	rs13306026, rs13333226	12149661, 12425201, 22352330
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	3495304, 23401897, 16889557, 16862529, 11686102, 16985174, 17190853, 19372260, 16634745, 22197721, 2563148, 26288715, 24319188
Myocardial infarction	Myocardial Failure	rs12316150, rs41303970, rs909253, rs7291467, rs2234693	22352330
Von willebrand disorder	von Willebrand Disease, Type 2A, von Willebrand Disease, Type 2B, von Willebrand disease type 2M, von Willebrand Disease, Recessive Form, Von Willebrand disease type 1, von Willebrand Disease, von Willebrand Disease, Type 1, von Willebrand Disease, Type 2, von Willebrand Disease, Type 3, von Willebrand Disease, Type 2N, Von Willebrand disease type 2A, Von Willebrand disease type 2B, Von Willebrand disease type 2N, Von Willebrand disease type 3	rs61750584, rs61750117, rs61750579, rs61749392, rs61749384, rs61749387, rs61749397, rs61749403, rs61748477, rs121964894, rs41276738, rs61750595, rs61750612, rs61751296, rs61749398, rs61749372, rs61749393, rs62643632, rs121964895, rs61748511, rs61750630, rs61754010, rs121908062, rs121908064, rs267607326, rs61748467, rs61753984, rs61754003, rs62643625, rs267607305, rs61754009, rs61748460, rs267607309, rs61748463, rs61748464, rs62643619, rs62643628, rs61748465, rs61748466, rs61748480, rs61748481, rs61748482, rs61753988, rs267607312, rs61748496, rs267607314, rs267607316, rs267607321, rs2363337, rs267607324, rs267607328, rs267607332, rs61749364, rs61749366, rs61749371, rs61749375, rs61749377, rs61749379, rs267607334, rs267607335, rs61749385, rs61749386, rs61749389, rs61749390, rs267607337, rs61749394, rs61749395, rs61749396, rs61749400, rs61749402, rs61749405, rs61749407, rs61749408, rs61750069, rs61750071, rs61750072, rs61750074, rs61750077, rs61753992, rs61750078, rs61750081, rs61750083, rs61750084, rs61753994, rs61750100, rs61750103, rs267607340, rs267607343, rs267607344, rs267607345, rs61750110, rs267607349, rs61750577, rs61750596, rs267607352, rs61750605, rs267607301, rs61750606, rs267607355, rs61750614, rs62643623, rs61750620, rs62643624, rs61750624, rs61750626, rs267607358, rs267607359, rs62643640, rs61751286, rs61751288, rs267607363, rs61751297, rs267607364, rs267607365, rs61751301, rs267607366, rs63749067, rs61751303, rs61751304, rs61753997, rs61751305, rs61753998, rs267607368, rs61754000, rs373787920, rs1555194979, rs762105711, rs1591834850, rs1591836930, rs139864572, rs1591838792, rs1591838814, rs1591838833, rs1591841452, rs111597150, rs1591848387, rs61750610, rs1591862022, rs1591862342, rs1591862366, rs1591863294, rs1591865617, rs1591870340, rs1591874316, rs1591886521, rs761288966, rs1591890769, rs1591895308, rs147924974, rs751286556, rs746457842, rs1591895879, rs1591914708, rs1591857613, rs1591924208, rs1591924188, rs746482504, rs772203447, rs1591858979, rs375655409	31064749, 8486782, 11325649, 15461624, 21534937, 18712522, 17190853, 8500791, 1918030, 26456374, 18449422, 1906877, 16221672, 20409624, 22102201, 1673047, 26986123, 17681836, 27532107, 21371195, 23110044, 23636243, 20305138, 31064749, 24675615, 23335371, 16985174, 24712919, 22197721, 21393328, 22875612, 16953269, 1832934, 1581215, 23426949, 16322474, 18485763, 18805962, 19566550, 28971901, 11698279, 10887119, 28971901, 1906179, 1429668, 1419803, 1420817, 7789955, 8338947, 2010538, 8622978, 2011604, 1729889, 2786201, 8123844, 8547152, 21592258, 1409710, 8435341, 7734373, 8376405, 7620154, 8348943, 1832934, 1672694, 8011991, 31064749, 1673047, 12406074, 1419804, 1761120, 8486782, 8123843, 10887119, 7989040, 8088787, 28971901

Unknown
Disease name	Disease term	dbSNP ID	References
Aortic valve sclerosis	Aortic Valve Stenosis
Cardiovascular diseases	Cardiovascular Diseases		16332659
Cerebral thrombosis	Cerebral Thrombosis, Brain Thrombosis		3111251
Cerebral thrombus	Brain Thrombus, Cerebral Thrombus		3111251
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569	22352330
Gastrointestinal angiodysplasia	Gastrointestinal angiodysplasia
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided	rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741	22352330
Intracranial thrombosis	Intracranial Thrombosis		3111251
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	rs199865688, rs397515994, rs757096307	17890461
Urogenital abnormalities	Urogenital Abnormalities