Varaico: Literature-Extracted Genetic Variants

VWA1

77 papers

RefSeq Summary

VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et a...

Pfam Domains

VWAaa 34–204UCSCvon Willebrand factor type A domain

fn3aa 333–419UCSCFibronectin type III domain

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 1

HGNC Alias Symbols

FLJ22215; VWA-1; WARP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022834.5

p.Y364*

c.1092C>A

Surrounding Variants

1 paper

NM_022834.5

p.Y364*

c.1092C>G

2 papers

NM_022834.5

p.Y364N

c.1090T>A

1 paper

NM_022834.5

p.Y364D

c.1090T>G

1 paper

NM_022834.5

p.G363_Y364insFs

c.1088_1091dup4

2 papers

NM_022834.5

p.Q367*

c.1099C>T

1 paper

NM_022834.5

p.R378W

c.1132C>T

1 paper

NM_022834.5

p.P382S

c.1144C>T

1 paper

NM_022834.5

p.L390_A406delFs

c.1169_1217del49

1 paper

NM_022834.5

p.I340fs

c.1018_1019fs

1 paper

NM_022834.5

p.L390fs

c.1168_1169fs

1 paper

NM_022834.5

p.I338M

c.1014C>G

1 paper

NM_022834.5

p.I338_V339insFs

c.1014_1017dup4