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.R1630fs

c.4888_4889fs

Surrounding Variants

1 paper

NM_153252.5

p.R1630insFs

c.4888dupA

1 paper

NM_153252.5

p.R1649G

c.4945A>G

1 paper

NM_153252.5

p.R1649I

c.4946G>T

1 paper

NM_153252.5

p.K1651E

c.4951A>G

1 paper

NM_153252.5

p.E1605Q

c.4813G>C

1 paper

NM_153252.5

p.G1661V

c.4982G>T

3 papers

NM_153252.5

p.K1596E

c.4786A>G

1 paper

NM_153252.5

p.R1668fs

c.5002_5003fs

1 paper

NM_153252.5

p.R1668delFs

c.5003delC

1 paper

NM_153252.5

p.K1590*

c.4768A>T

1 paper

NM_153252.5

p.G1688*

c.5062G>T

1 paper

NM_153252.5

p.G1693_R1694insT

c.5077_5081ins3