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

5 papers

NM_001304808.3

p.L444P

c.1331T>C

Surrounding Variants

1 paper

NM_001304808.3

p.V443V

c.1329C>T

1 paper

NM_001304808.3

p.T446S

c.1336A>T

1 paper

NM_001304808.3

p.T446T

c.1338C>T

1 paper

NM_001304808.3

p.C448Y

c.1343G>A

1 paper

NM_001304808.3

p.L437L

c.1311G>C

1 paper

NM_001304808.3

p.L437P

c.1310T>C

1 paper

NM_001304808.3

p.P453S

c.1357C>T

1 paper

NM_001304808.3

p.P453R

c.1358C>G

1 paper

NM_001304808.3

p.P453H

c.1358C>A

2 papers

NM_001304808.3

p.Q455*

c.1363C>T

1 paper

NM_001304808.3

p.A433T

c.1297G>A

1 paper

NM_001304808.3

p.R456Splc

c.1367+1G>C