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

4 papers

NM_001272046.2

p.V366M

c.1096G>A

Surrounding Variants

1 paper

NM_001272046.2

p.F365F

c.1095C>T

1 paper

NM_001272046.2

p.A362T

c.1084G>A

1 paper

NM_001272046.2

p.R371W

c.1111C>T

1 paper

NM_001272046.2

p.A372A

c.1116C>A

2 papers

NM_001272046.2

p.S378C

c.1133C>G

2 papers

NM_001272046.2

p.R379Q

c.1136G>A

1 paper

NM_001272046.2

p.A385V

c.1154C>T

1 paper

NM_001272046.2

p.L345del1

c.1033_1035delCTC

1 paper

NM_001272046.2

p.Q401*

c.1201C>T

1 paper

NM_001272046.2

p.G412delFs

c.1234delG

1 paper

NM_001272046.2

p.L426F

c.1278G>C

1 paper

NM_001272046.2

p.L426F

c.1278G>T