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.Q711R

c.2132A>G

Surrounding Variants

2 papers

NM_001272046.2

p.L715F

c.2143C>T

1 paper

NM_001272046.2

p.C747Y

c.2240G>A

1 paper

NM_001272046.2

p.R750*

c.2248C>T

1 paper

NM_001272046.2

p.I686N

c.2057T>A

1 paper

NM_001272046.2

p.L685V

c.2053C>G

3 papers

NM_001272046.2

p.R676_A679ins1

c.2027_2035dup9

1 paper

NM_001272046.2

p.V667M

c.1999G>A

1 paper

NM_001272046.2

p.A645T

c.1933G>A

1 paper

NM_001272046.2

p.G642R

c.1924G>A

1 paper

NM_001272046.2

p.G642R

c.1924G>C

1 paper

NM_001272046.2

p.R754C

c.2260C>T

1 paper

NM_001272046.2

p.P633S

c.1897C>T