Varaico: Literature-Extracted Genetic Variants

BRWD3

164 papers

RefSeq Summary

The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene ...

Pfam Domains

BRWD1_Naa 1–84UCSCBRWD1-like, N-terminal domain

WD40aa 171–208UCSCWD domain, G-beta repeat

WD40aa 212–250UCSCWD domain, G-beta repeat

WD40aa 254–296UCSCWD domain, G-beta repeat

WD40aa 312–345UCSCWD domain, G-beta repeat

WD40aa 352–392UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

bromodomain and WD repeat domain containing 3

HGNC Alias Symbols

BRODL; MRX93; FLJ38568

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_153252.5

p.C254R

c.760T>C

Surrounding Variants

2 papers

NM_153252.5

p.A255T

c.763G>A

3 papers

NM_153252.5

p.Y232*

c.696T>G

3 papers

NM_153252.5

p.Y232*

c.696T>A

1 paper

NM_153252.5

p.S222C

c.665C>G

1 paper

NM_153252.5

p.R219C

c.655C>T

1 paper

NM_153252.5

p.Q271_F272Splc

c.813+73G>T

1 paper

NM_153252.5

p.G212*

c.634G>T

1 paper

NM_153252.5

p.D201delFs

c.601delC

1 paper

NM_153252.5

p.T197_G198Splc

c.592-3T>C

1 paper

NM_153252.5

p.I195V

c.583A>G

1 paper

NM_153252.5

p.R193insFs

c.579dupA

1 paper

NM_153252.5

p.R190Q

c.569G>A