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.E78K

c.232G>A

Surrounding Variants

1 paper

NM_001304808.3

p.E78D

c.234A>T

1 paper

NM_001304808.3

p.K77M

c.230A>T

1 paper

NM_001304808.3

p.K77R

c.230A>G

1 paper

NM_001304808.3

p.N79S

c.236A>G

1 paper

NM_001304808.3

p.S80R

c.238A>C

1 paper

NM_001304808.3

p.S80I

c.239G>T

1 paper

NM_001304808.3

p.S80R

c.240C>G

1 paper

NM_001304808.3

p.S80R

c.240C>A

1 paper

NM_001304808.3

p.E81K

c.241G>A

1 paper

NM_001304808.3

p.S75R

c.223A>C

1 paper

NM_001304808.3

p.C73F

c.218G>T

1 paper

NM_001304808.3

p.C73S

c.218G>C