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.H92Q

c.276C>A

Surrounding Variants

1 paper

NM_001304808.3

p.H92Q

c.276C>G

1 paper

NM_001304808.3

p.H92L

c.275A>T

1 paper

NM_001304808.3

p.H92N

c.274C>A

1 paper

NM_001304808.3

p.R91P

c.272G>C

1 paper

NM_001304808.3

p.K90fs

c.268_269fs

1 paper

NM_001304808.3

p.N94N

c.282C>T

1 paper

NM_001304808.3

p.K90R

c.269A>G

1 paper

NM_001304808.3

p.R96G

c.286A>G

1 paper

NM_001304808.3

p.R88K

c.263G>A

1 paper

NM_001304808.3

p.K100*

c.298A>T

1 paper

NM_001304808.3

p.K100N

c.300A>T

1 paper

NM_001304808.3

p.R82_P83insFs

c.246_247insG