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.R1288W

c.3862A>T

Surrounding Variants

1 paper

NM_144992.5

p.L1287L

c.3861G>T

1 paper

NM_144992.5

p.L1287R

c.3860T>G

1 paper

NM_144992.5

p.G1286W

c.3856G>T

1 paper

NM_144992.5

p.*1295E

c.3883T>G

1 paper

NM_144992.5

p.S1261N

c.3782G>A

4 papers

NM_144992.5

p.R1245K

c.3734G>A

1 paper

NM_144992.5

p.G1239W

c.3715G>T

1 paper

NM_144992.5

p.D1225D

c.3675C>T

6 papers

NM_144992.5

p.D1223E

c.3669C>A

6 papers

NM_144992.5

p.D1223E

c.3669C>G

1 paper

NM_144992.5

p.A1220V

c.3659C>T

1 paper

NM_144992.5

p.Q1214*

c.3640C>T