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.I55F

c.163A>T

Surrounding Variants

1 paper

NM_144992.5

p.Q54H

c.162G>C

1 paper

NM_144992.5

p.Q54H

c.162G>T

1 paper

NM_144992.5

p.K49N

c.147A>C

3 papers

NM_144992.5

p.A29S

c.85G>T

1 paper

NM_144992.5

p.D27H

c.79G>C

1 paper

NM_144992.5

p.P6L

c.17C>T

1 paper

NM_144992.5

p.P6insFs

c.17dupC

1 paper

NM_144992.5

p.M1K

c.2T>A