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.K368Q

c.1102A>C

Surrounding Variants

1 paper

NM_001304808.3

p.K368E

c.1102A>G

1 paper

NM_001304808.3

p.V367A

c.1100T>C

1 paper

NM_001304808.3

p.E365K

c.1093G>A

1 paper

NM_001304808.3

p.T375I

c.1124C>T

1 paper

NM_001304808.3

p.S378F

c.1133C>T

2 papers

NM_001304808.3

p.V379I

c.1135G>A

1 paper

NM_001304808.3

p.Q356*

c.1066C>T

1 paper

NM_001304808.3

p.R380insFs

c.1138_1139insT

1 paper

NM_001304808.3

p.T353T

c.1059G>A

1 paper

NM_001304808.3

p.T353M

c.1058C>T

1 paper

NM_001304808.3

p.C385Y

c.1154G>A

1 paper

NM_001304808.3

p.F350S

c.1049T>C