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.V340I

c.1018G>A

Surrounding Variants

1 paper

NM_144992.5

p.E335K

c.1003G>A

1 paper

NM_144992.5

p.E346_I354del9

c.1036_1061del27

2 papers

NM_144992.5

p.I354M

c.1062C>G

1 paper

NM_144992.5

p.V358M

c.1072G>A

4 papers

NM_144992.5

p.V358G

c.1073T>G

7 papers

NM_144992.5

p.E372*

c.1114G>T