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.R1194_L1195insFs

c.3582_3583insT

Surrounding Variants

1 paper

NM_153252.5

p.L1195fs

c.3583_3584fs

1 paper

NM_153252.5

p.E1196Q

c.3586G>C

1 paper

NM_153252.5

p.L1195delFs

c.3585delA

1 paper

NM_153252.5

p.R1192K

c.3575G>A

1 paper

NM_153252.5

p.R1201G

c.3601A>G

1 paper

NM_153252.5

p.R1201Splc

c.3602+1G>A

1 paper

NM_153252.5

p.R1201Splc

c.3602+20C>G

1 paper

NM_153252.5

p.A1163V

c.3488C>T

1 paper

NM_153252.5

p.D1161Splc

c.3481+6A>G

2 papers

NM_153252.5

p.E1145K

c.3433G>A

1 paper

NM_153252.5

p.H1141L

c.3422A>T

1 paper

NM_153252.5

p.A1140G

c.3419C>G