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

1–12 of 247 variants

4 papers

NM_153252.5

p.P308A

c.922C>G

4 papers

NM_153252.5

p.T1109Splc

c.3325+1G>T

4 papers

NM_153252.5

p.K1288R

c.3863A>G

3 papers

NM_153252.5

p.Y232*

c.696T>G

3 papers

NM_153252.5

p.Y232*

c.696T>A

3 papers

NM_153252.5

p.T577P

c.1729A>C

3 papers

NM_153252.5

p.R1326*

c.3976C>T

3 papers

NM_153252.5

p.K1596E

c.4786A>G

2 papers

NM_153252.5

p.G23R

c.67G>C

2 papers

NM_153252.5

p.G23R

c.67G>A

2 papers

NM_153252.5

p.R55S

c.165A>C

2 papers

NM_153252.5

p.E86K

c.256G>A