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

5 papers

NM_144992.5

p.K622T

c.1865A>C

Surrounding Variants

1 paper

NM_144992.5

p.R623S

c.1867C>A

2 papers

NM_144992.5

p.Y636*

c.1908C>A

2 papers

NM_144992.5

p.Y636*

c.1908C>G

1 paper

NM_144992.5

p.Y659fs

c.1975_1976fs

1 paper

NM_144992.5

p.P666L

c.1997C>T

1 paper

NM_144992.5

p.P668H

c.2003C>A

1 paper

NM_144992.5

p.S582I

c.1745G>T