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.E43A

c.128A>C

Surrounding Variants

1 paper

NM_001304808.3

p.E43K

c.127G>A

1 paper

NM_001304808.3

p.I42K

c.125T>A

1 paper

NM_001304808.3

p.E45K

c.133G>A

1 paper

NM_001304808.3

p.E41E

c.123G>A

1 paper

NM_001304808.3

p.E45A

c.134A>C

1 paper

NM_001304808.3

p.E41A

c.122A>C

2 papers

NM_001304808.3

p.E41K

c.121G>A

1 paper

NM_001304808.3

p.L48insFs

c.143_144insA

1 paper

NM_001304808.3

p.H49N

c.145C>A

1 paper

NM_001304808.3

p.Q37E

c.109C>G

1 paper

NM_001304808.3

p.S52C

c.154A>T

1 paper

NM_001304808.3

p.S52I

c.155G>T