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.V885M

c.2653G>A

Surrounding Variants

1 paper

NM_144992.5

p.K887Q

c.2659A>C

3 papers

NM_144992.5

p.P871L

c.2612C>T

1 paper

NM_144992.5

p.P871S

c.2611C>T

1 paper

NM_144992.5

p.A864D

c.2591C>A

1 paper

NM_144992.5

p.L861R

c.2582T>G

1 paper

NM_144992.5

p.L849V

c.2545C>G

1 paper

NM_144992.5

p.S840_V843del0

c.2518_2529del12

1 paper

NM_144992.5

p.D821G

c.2462A>G

1 paper

NM_144992.5

p.C789Y

c.2366G>A

1 paper

NM_144992.5

p.S786I

c.2357G>T

1 paper

NM_144992.5

p.I722T

c.2165T>C

1 paper

NM_144992.5

p.K717Splc

c.2151-30T>C