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.K283M

c.848A>T

Surrounding Variants

2 papers

NM_001304808.3

p.K283R

c.848A>G

1 paper

NM_001304808.3

p.K283Q

c.847A>C

1 paper

NM_001304808.3

p.K282T

c.845A>C

1 paper

NM_001304808.3

p.A280D

c.839C>A

1 paper

NM_001304808.3

p.D287N

c.859G>A

1 paper

NM_001304808.3

p.G279V

c.836G>T

1 paper

NM_001304808.3

p.G279R

c.835G>C

1 paper

NM_001304808.3

p.G279S

c.835G>A

1 paper

NM_001304808.3

p.K277N

c.831G>T

1 paper

NM_001304808.3

p.K277N

c.831G>C

1 paper

NM_001304808.3

p.W289insFs

c.866_867insCT

1 paper

NM_001304808.3

p.R265_P275del0

c.793_825del33