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.P320A

c.958C>G

Surrounding Variants

1 paper

NM_001304808.3

p.A321A

c.963C>A

1 paper

NM_001304808.3

p.R322Q

c.965G>A

1 paper

NM_001304808.3

p.N317S

c.950A>G

2 papers

NM_001304808.3

p.N317D

c.949A>G

1 paper

NM_001304808.3

p.V315_R316insFs

c.945_946insA

1 paper

NM_001304808.3

p.L329insFs

c.985_986insA

1 paper

NM_001304808.3

p.E310G

c.929A>G

1 paper

NM_001304808.3

p.E310A

c.929A>C

1 paper

NM_001304808.3

p.C330Y

c.989G>A

1 paper

NM_001304808.3

p.F308_I309insFs

c.924_925insT

1 paper

NM_001304808.3

p.F308L

c.922T>C

2 papers

NM_001304808.3

p.K333E

c.997A>G