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

1–12 of 90 variants

4 papers

NM_001272046.2

p.V366M

c.1096G>A

3 papers

NM_001272046.2

p.A9T

c.25G>A

3 papers

NM_001272046.2

p.R676_A679ins1

c.2027_2035dup9

3 papers

NM_001272046.2

p.Q711R

c.2132A>G

2 papers

NM_001272046.2

p.E131G

c.392A>G

2 papers

NM_001272046.2

p.L137R

c.410T>G

2 papers

NM_001272046.2

p.L321P

c.962T>C

2 papers

NM_001272046.2

p.S378C

c.1133C>G

2 papers

NM_001272046.2

p.R379Q

c.1136G>A

2 papers

NM_001272046.2

p.R432H

c.1295G>A

2 papers

NM_001272046.2

p.R446C

c.1336C>T

2 papers

NM_001272046.2

p.H456Y

c.1366C>T