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.P252A

c.754C>G

Surrounding Variants

1 paper

NM_001304808.3

p.E253K

c.757G>A

1 paper

NM_001304808.3

p.I251F

c.751A>T

1 paper

NM_001304808.3

p.Y250*

c.750C>G

1 paper

NM_001304808.3

p.G254R

c.760G>C

1 paper

NM_001304808.3

p.G254D

c.761G>A

1 paper

NM_001304808.3

p.V248V

c.744G>A

1 paper

NM_001304808.3

p.G247A

c.740G>C

1 paper

NM_001304808.3

p.W256*

c.768G>A

1 paper

NM_001304808.3

p.L257F

c.769C>T

1 paper

NM_001304808.3

p.L257L

c.771C>T

2 papers

NM_001304808.3

p.C245C

c.735C>T

1 paper

NM_001304808.3

p.R259R

c.777C>A