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

1–12 of 479 variants

5 papers

NM_001304808.3

p.L444P

c.1331T>C

2 papers

NM_001304808.3

p.M1V

c.1A>G

2 papers

NM_001304808.3

p.A12V

c.35C>T

2 papers

NM_001304808.3

p.V22V

c.66T>A

2 papers

NM_001304808.3

p.Y33C

c.98A>G

2 papers

NM_001304808.3

p.E41K

c.121G>A

2 papers

NM_001304808.3

p.D64N

c.190G>A

2 papers

NM_001304808.3

p.T66A

c.196A>G

2 papers

NM_001304808.3

p.E148A

c.443A>C

2 papers

NM_001304808.3

p.W165*

c.495G>A

2 papers

NM_001304808.3

p.R173P

c.518G>C

2 papers

NM_001304808.3

p.D176A

c.527A>C