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

2 papers

NM_001304808.3

p.E148A

c.443A>C

Surrounding Variants

1 paper

NM_001304808.3

p.E149A

c.446A>C

1 paper

NM_001304808.3

p.A147T

c.439G>A

1 paper

NM_001304808.3

p.L150L

c.450G>A

1 paper

NM_001304808.3

p.K145T

c.434A>C

1 paper

NM_001304808.3

p.K145*

c.433A>T

1 paper

NM_001304808.3

p.E153Q

c.457G>C

1 paper

NM_001304808.3

p.V154M

c.460G>A

1 paper

NM_001304808.3

p.V154E

c.461T>A

1 paper

NM_001304808.3

p.E155insFs

c.464_465insT

1 paper

NM_001304808.3

p.K141Q

c.421A>C

1 paper

NM_001304808.3

p.D157N

c.469G>A

1 paper

NM_001304808.3

p.V138V

c.414G>A