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.V230L

c.688G>T

Surrounding Variants

2 papers

NM_001304808.3

p.V230L

c.688G>C

1 paper

NM_001304808.3

p.S228insFs

c.683_684insC

1 paper

NM_001304808.3

p.L232L

c.696C>T

2 papers

NM_001304808.3

p.C225S

c.674G>C

2 papers

NM_001304808.3

p.C225S

c.673T>A

1 paper

NM_001304808.3

p.D235A

c.704A>C

1 paper

NM_001304808.3

p.D222G

c.665A>G

1 paper

NM_001304808.3

p.D222N

c.664G>A

1 paper

NM_001304808.3

p.N238_L239insFs

c.714_715insA

1 paper

NM_001304808.3

p.M221V

c.661A>G

1 paper

NM_001304808.3

p.I219N

c.656T>A

1 paper

NM_001304808.3

p.V241G

c.722T>G