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

3 papers

NM_153252.5

p.T577P

c.1729A>C

Surrounding Variants

1 paper

NM_153252.5

p.I565fs

c.1693_1694fs

1 paper

NM_153252.5

p.I565insFs

c.1693_1694insT

1 paper

NM_153252.5

p.R562H

c.1685G>A

1 paper

NM_153252.5

p.T559M

c.1676C>T

1 paper

NM_153252.5

p.N595N

c.1785T>C

1 paper

NM_153252.5

p.Q554*

c.1660C>T

1 paper

NM_153252.5

p.R608W

c.1822C>T

1 paper

NM_153252.5

p.R608Q

c.1823G>A

1 paper

NM_153252.5

p.K612E

c.1834A>G

1 paper

NM_153252.5

p.I617fs

c.1849_1850fs

1 paper

NM_153252.5

p.P618Q

c.1853C>A

1 paper

NM_153252.5

p.G621R

c.1861G>C