Varaico: Literature-Extracted Genetic Variants

VWA2

82 papers

RefSeq Summary

This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basem...

Pfam Domains

VWAaa 51–221UCSCvon Willebrand factor type A domain

EGFaa 299–329UCSCEGF-like domain

VWAaa 343–515UCSCvon Willebrand factor type A domain

VWAaa 531–699UCSCvon Willebrand factor type A domain

EGFaa 716–746UCSCEGF-like domain

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 2

HGNC Alias Symbols

FLJ45857; FLJ16213; CCSP-2; AMACO; NET42

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001272046.2

p.S457insFs

c.1369_1370insCC

Surrounding Variants

2 papers

NM_001272046.2

p.H456Y

c.1366C>T

1 paper

NM_001272046.2

p.E458fs

c.1372_1373fs

1 paper

NM_001272046.2

p.R466C

c.1396C>T

1 paper

NM_001272046.2

p.R466H

c.1397G>A

1 paper

NM_001272046.2

p.H467fs

c.1399_1400fs

1 paper

NM_001272046.2

p.R446H

c.1337G>A

2 papers

NM_001272046.2

p.R446C

c.1336C>T

1 paper

NM_001272046.2

p.R444Q

c.1331G>A

1 paper

NM_001272046.2

p.R471*

c.1411C>T

1 paper

NM_001272046.2

p.G435R

c.1303G>A

1 paper

NM_001272046.2

p.G435R

c.1303G>C

2 papers

NM_001272046.2

p.R432H

c.1295G>A