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.R412*

c.1234C>T

Surrounding Variants

1 paper

NM_001304808.3

p.V410V

c.1230C>T

1 paper

NM_001304808.3

p.K413fs

c.1237_1238fs

1 paper

NM_001304808.3

p.K413delFs

c.1238_1239delTT

1 paper

NM_001304808.3

p.E414A

c.1241A>C

1 paper

NM_001304808.3

p.K418R

c.1253A>G

1 paper

NM_001304808.3

p.E405G

c.1214A>G

1 paper

NM_001304808.3

p.T419R

c.1256C>G

1 paper

NM_001304808.3

p.D403E

c.1209T>A

1 paper

NM_001304808.3

p.D403G

c.1208A>G

1 paper

NM_001304808.3

p.R421insFs

c.1261_1262insG

1 paper

NM_001304808.3

p.G402R

c.1204G>C

1 paper

NM_001304808.3

p.G402R

c.1204G>A