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.P1302H

c.3905C>A

Surrounding Variants

1 paper

NM_153252.5

p.A1304insFs

c.3910dupG

1 paper

NM_153252.5

p.R1319C

c.3955C>T

1 paper

NM_153252.5

p.D1321H

c.3961G>C

1 paper

NM_153252.5

p.S1322insFs

c.3965dupC

3 papers

NM_153252.5

p.R1326*

c.3976C>T

1 paper

NM_153252.5

p.R1326Q

c.3977G>A

2 papers

NM_153252.5

p.S1333Y

c.3998C>A

1 paper

NM_153252.5

p.P1335T

c.4003C>A

1 paper

NM_153252.5

p.K1288_V1289Splc

c.3864+2T>C

4 papers

NM_153252.5

p.K1288R

c.3863A>G

1 paper

NM_153252.5

p.G1286E

c.3857G>A

1 paper

NM_153252.5

p.G1282fs

c.3844_3845fs