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

4 papers

NM_022834.5

p.R302Q

c.905G>A

Surrounding Variants

1 paper

NM_022834.5

p.P303L

c.908C>T

4 papers

NM_022834.5

p.R293delFs

c.879delG

3 papers

NM_022834.5

p.R293fs

c.877_878fs

1 paper

NM_022834.5

p.S315*

c.944C>A

1 paper

NM_022834.5

p.A317delFs

c.949delG

1 paper

NM_022834.5

p.A317fs

c.949_950fs

1 paper

NM_022834.5

p.P285L

c.854C>T

1 paper

NM_022834.5

p.A326P

c.976G>C

1 paper

NM_022834.5

p.A326G

c.977C>G

1 paper

NM_022834.5

p.A329T

c.985G>A

1 paper

NM_022834.5

p.I338_V339insFs

c.1014_1017dup4

1 paper

NM_022834.5

p.I338M

c.1014C>G