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

2 papers

NM_001304808.3

p.M1V

c.1A>G

Surrounding Variants

1 paper

NM_001304808.3

p.M1T

c.2T>C

1 paper

NM_001304808.3

p.M1I

c.3G>T

1 paper

NM_001304808.3

p.M1I

c.3G>A

1 paper

NM_001304808.3

p.R2insFs

c.4_5insT

1 paper

NM_001304808.3

p.R2T

c.5G>C

1 paper

NM_001304808.3

p.R2delFs

c.5delC

1 paper

NM_001304808.3

p.R3insFs

c.7dupA

1 paper

NM_001304808.3

p.R6R

c.18A>G

1 paper

NM_001304808.3

p.H8P

c.23A>C

1 paper

NM_001304808.3

p.H8H

c.24T>C

1 paper

NM_001304808.3

p.H8Q

c.24T>A

1 paper

NM_001304808.3

p.R9P

c.26G>C