Varaico: Literature-Extracted Genetic Variants

VWA3B

120 papers

RefSeq Summary

This gene encodes an intracellular protein that contains a von Willebrand factor type A domain. Intracellular proteins with VWA domains are thought to function in transcription, DNA repair, ribosomal ...

Pfam Domains

VWA_3aa 140–288UCSCvon Willebrand factor type A domain

VWA_3aa 508–658UCSCvon Willebrand factor type A domain

DUF4537aa 1037–1163UCSCDomain of unknown function (DUF4537)

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 3B

HGNC Alias Symbols

DKFZp686F2227; MGC26733

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144992.5

p.R122*

c.364C>T

Surrounding Variants

1 paper

NM_144992.5

p.V116_S118del0

c.346_354del9

2 papers

NM_144992.5

p.F134delFs

c.402delT

1 paper

NM_144992.5

p.Q107*

c.319C>T

1 paper

NM_144992.5

p.G154E

c.461G>A

1 paper

NM_144992.5

p.D157H

c.469G>C

4 papers

NM_144992.5

p.R181W

c.541C>T

1 paper

NM_144992.5

p.T212M

c.635C>T

6 papers

NM_144992.5

p.E219*

c.655G>T

1 paper

NM_144992.5

p.E219V

c.656A>T

1 paper

NM_144992.5

p.R222C

c.664C>T

3 papers

NM_144992.5

p.R222H

c.665G>A

1 paper

NM_144992.5

p.L227delFs

c.679delC