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.I59I

c.177C>T

Surrounding Variants

1 paper

NM_001304808.3

p.I59N

c.176T>A

1 paper

NM_001304808.3

p.I59V

c.175A>G

1 paper

NM_001304808.3

p.E58V

c.173A>T

1 paper

NM_001304808.3

p.E62K

c.184G>A

1 paper

NM_001304808.3

p.E62A

c.185A>C

1 paper

NM_001304808.3

p.D63A

c.188A>C

2 papers

NM_001304808.3

p.D64N

c.190G>A

1 paper

NM_001304808.3

p.D64A

c.191A>C

1 paper

NM_001304808.3

p.F54Y

c.161T>A

1 paper

NM_001304808.3

p.L65L

c.195C>A

2 papers

NM_001304808.3

p.T66A

c.196A>G

1 paper

NM_001304808.3

p.I53F

c.157A>T