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.K203E

c.607A>G

Surrounding Variants

1 paper

NM_001304808.3

p.E206V

c.617A>T

1 paper

NM_001304808.3

p.H198H

c.594C>T

1 paper

NM_001304808.3

p.Q208delFs

c.624delC

1 paper

NM_001304808.3

p.L210P

c.629T>C

1 paper

NM_001304808.3

p.L210delFs

c.628delG

2 papers

NM_001304808.3

p.D212H

c.634G>C

1 paper

NM_001304808.3

p.F193delFs

c.578delA

1 paper

NM_001304808.3

p.D212A

c.635A>C

1 paper

NM_001304808.3

p.F193S

c.578T>C

1 paper

NM_001304808.3

p.D214A

c.641A>C

1 paper

NM_001304808.3

p.D214insFs

c.641_642insT

1 paper

NM_001304808.3

p.V216G

c.647T>G