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

3 papers

NM_001272046.2

p.A9T

c.25G>A

Surrounding Variants

1 paper

NM_001272046.2

p.M53K

c.158T>A

1 paper

NM_001272046.2

p.G58W

c.172G>T

1 paper

NM_001272046.2

p.G63G

c.189G>T

1 paper

NM_001272046.2

p.G80S

c.238G>A