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.S25P

c.73T>C

Surrounding Variants

1 paper

NM_001304808.3

p.H24L

c.71A>T

1 paper

NM_001304808.3

p.K23K

c.69A>G

1 paper

NM_001304808.3

p.V22V

c.66T>G

2 papers

NM_001304808.3

p.V22V

c.66T>A

1 paper

NM_001304808.3

p.T27M

c.80C>T

1 paper

NM_001304808.3

p.V22insFs

c.65_66insG

1 paper

NM_001304808.3

p.V22I

c.64G>A

1 paper

NM_001304808.3

p.R28*

c.82C>T

1 paper

NM_001304808.3

p.E29K

c.85G>A

1 paper

NM_001304808.3

p.E29V

c.86A>T

1 paper

NM_001304808.3

p.T30A

c.88A>G

1 paper

NM_001304808.3

p.P19P

c.57A>T