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.R173C

c.517C>T

Surrounding Variants

1 paper

NM_001304808.3

p.K172N

c.516G>T

2 papers

NM_001304808.3

p.R173P

c.518G>C

1 paper

NM_001304808.3

p.K174*

c.520A>T

1 paper

NM_001304808.3

p.K174Q

c.520A>C

1 paper

NM_001304808.3

p.D176H

c.526G>C

2 papers

NM_001304808.3

p.D176A

c.527A>C

1 paper

NM_001304808.3

p.E167D

c.501G>T

1 paper

NM_001304808.3

p.E167D

c.501G>C

1 paper

NM_001304808.3

p.E167delFs

c.500delT

1 paper

NM_001304808.3

p.P179L

c.536C>T

2 papers

NM_001304808.3

p.W165*

c.495G>A

1 paper

NM_001304808.3

p.W165*

c.494G>A