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.L218P

c.653T>C

Surrounding Variants

1 paper

NM_001272046.2

p.A214V

c.641C>T

1 paper

NM_001272046.2

p.S225S

c.675G>A

1 paper

NM_001272046.2

p.A195V

c.584C>T

1 paper

NM_001272046.2

p.R264Q

c.791G>A

1 paper

NM_001272046.2

p.L270V

c.808C>G

1 paper

NM_001272046.2

p.C274S

c.820T>A

1 paper

NM_001272046.2

p.C274S

c.821G>C

1 paper

NM_001272046.2

p.F276L

c.826T>C

1 paper

NM_001272046.2

p.F276L

c.828C>A

1 paper

NM_001272046.2

p.F276L

c.828C>G

1 paper

NM_001272046.2

p.T293I

c.878C>T

1 paper

NM_001272046.2

p.R189M

c.566G>T