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.S128R

c.384C>G

Surrounding Variants

1 paper

NM_001304808.3

p.S128R

c.384C>A

1 paper

NM_001304808.3

p.S128R

c.382A>C

1 paper

NM_001304808.3

p.E126*

c.376G>T

1 paper

NM_001304808.3

p.V125_E126insFs

c.375_376insCC

1 paper

NM_001304808.3

p.V125V

c.375G>A

1 paper

NM_001304808.3

p.V125E

c.374T>A

1 paper

NM_001304808.3

p.V125M

c.373G>A

1 paper

NM_001304808.3

p.P133L

c.398C>T

1 paper

NM_001304808.3

p.R123C

c.367C>T

1 paper

NM_001304808.3

p.R135S

c.405G>T

1 paper

NM_001304808.3

p.R135S

c.405G>C

1 paper

NM_001304808.3

p.P136L

c.407C>T