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.I53insFs

c.157_158insC

Surrounding Variants

1 paper

NM_001304808.3

p.I53F

c.157A>T

1 paper

NM_001304808.3

p.I53V

c.157A>G

1 paper

NM_001304808.3

p.S52R

c.156T>A

1 paper

NM_001304808.3

p.S52I

c.155G>T

1 paper

NM_001304808.3

p.S52T

c.155G>C

1 paper

NM_001304808.3

p.S52N

c.155G>A

1 paper

NM_001304808.3

p.S52C

c.154A>T

1 paper

NM_001304808.3

p.F54Y

c.161T>A

1 paper

NM_001304808.3

p.H49N

c.145C>A

1 paper

NM_001304808.3

p.L48insFs

c.143_144insA

1 paper

NM_001304808.3

p.E58V

c.173A>T

1 paper

NM_001304808.3

p.I59V

c.175A>G