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.C341*

c.1023C>A

Surrounding Variants

1 paper

NM_001304808.3

p.H342Y

c.1024C>T

1 paper

NM_001304808.3

p.C341G

c.1021T>G

1 paper

NM_001304808.3

p.K343Q

c.1027A>C

1 paper

NM_001304808.3

p.K343R

c.1028A>G

1 paper

NM_001304808.3

p.A344E

c.1031C>A

1 paper

NM_001304808.3

p.N345insFs

c.1033_1034insCG

1 paper

NM_001304808.3

p.N345_C346insFs

c.1035_1036insC

1 paper

NM_001304808.3

p.G336C

c.1006G>T

1 paper

NM_001304808.3

p.V335_G336insFs

c.1005_1006insA

1 paper

NM_001304808.3

p.V335E

c.1004T>A

1 paper

NM_001304808.3

p.T348P

c.1042A>C

1 paper

NM_001304808.3

p.A349S

c.1045G>T