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.S113S

c.339G>C

Surrounding Variants

1 paper

NM_001304808.3

p.A114G

c.341C>G

1 paper

NM_001304808.3

p.A112S

c.334G>T

1 paper

NM_001304808.3

p.L117F

c.349C>T

1 paper

NM_001304808.3

p.T110M

c.329C>T

1 paper

NM_001304808.3

p.L117H

c.350T>A

1 paper

NM_001304808.3

p.P118S

c.352C>T

1 paper

NM_001304808.3

p.P118L

c.353C>T

1 paper

NM_001304808.3

p.P118Q

c.353C>A

1 paper

NM_001304808.3

p.E119Q

c.355G>C

1 paper

NM_001304808.3

p.E119V

c.356A>T

1 paper

NM_001304808.3

p.E119A

c.356A>C

1 paper

NM_001304808.3

p.E119D

c.357G>T