Varaico: Literature-Extracted Genetic Variants

BRD1

688 papers

RefSeq Summary

This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase compl...

Pfam Domains

EPL1aa 47–196UCSCEnhancer of polycomb-like

PHD_2aa 228–262UCSCPHD-finger

zf-HC5HC2H_2aa 269–388UCSCPHD-zinc-finger like domain

Bromodomainaa 571–654UCSCBromodomain

PWWPaa 930–1043UCSCPWWP domain

Gene Aliases

HGNC Name

bromodomain containing 1

HGNC Alias Symbols

BRL; BRPF2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001304808.3

p.P397S

c.1189C>T

Surrounding Variants

1 paper

NM_001304808.3

p.P397A

c.1189C>G

1 paper

NM_001304808.3

p.P397insFs

c.1190_1191insC

1 paper

NM_001304808.3

p.T394A

c.1180A>G

1 paper

NM_001304808.3

p.C393_T394insFs

c.1179_1180insC

1 paper

NM_001304808.3

p.Y401D

c.1201T>G

2 papers

NM_001304808.3

p.Y401C

c.1202A>G

1 paper

NM_001304808.3

p.Y401_G402ins1

c.1203_1204insAGC

1 paper

NM_001304808.3

p.G402R

c.1204G>C

1 paper

NM_001304808.3

p.G402R

c.1204G>A

1 paper

NM_001304808.3

p.G392S

c.1174G>A

1 paper

NM_001304808.3

p.D403G

c.1208A>G

1 paper

NM_001304808.3

p.D403E

c.1209T>A