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

2 papers

NM_001272046.2

p.L137R

c.410T>G

Surrounding Variants

2 papers

NM_001272046.2

p.E131G

c.392A>G

1 paper

NM_001272046.2

p.E131K

c.391G>A

1 paper

NM_001272046.2

p.G144E

c.431G>A

1 paper

NM_001272046.2

p.T128M

c.383C>T

1 paper

NM_001272046.2

p.R127C

c.379C>T

1 paper

NM_001272046.2

p.T158A

c.472A>G

1 paper

NM_001272046.2

p.A167delFs

c.499_500delGC

1 paper

NM_001272046.2

p.R189M

c.566G>T

1 paper

NM_001272046.2

p.A195V

c.584C>T

1 paper

NM_001272046.2

p.A214V

c.641C>T

1 paper

NM_001272046.2

p.L218P

c.653T>C

1 paper

NM_001272046.2

p.S225S

c.675G>A