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

1–12 of 123 variants

7 papers

NM_144992.5

p.E372*

c.1114G>T

6 papers

NM_144992.5

p.E219*

c.655G>T

6 papers

NM_144992.5

p.D1223E

c.3669C>A

6 papers

NM_144992.5

p.D1223E

c.3669C>G

5 papers

NM_144992.5

p.K622T

c.1865A>C

5 papers

NM_144992.5

p.L677V

c.2029C>G

5 papers

NM_144992.5

p.V885M

c.2653G>A

4 papers

NM_144992.5

p.R181W

c.541C>T

4 papers

NM_144992.5

p.V358G

c.1073T>G

4 papers

NM_144992.5

p.R1245K

c.3734G>A

3 papers

NM_144992.5

p.A29S

c.85G>T

3 papers

NM_144992.5

p.R222H

c.665G>A