Varaico: Literature-Extracted Genetic Variants

BRPF1

154 papers

RefSeq Summary

This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase comp...

Pfam Domains

EPL1aa 106–255UCSCEnhancer of polycomb-like

PHD_2aa 287–321UCSCPHD-finger

zf-HC5HC2H_2aa 328–447UCSCPHD-zinc-finger like domain

Bromodomainaa 637–726UCSCBromodomain

PWWPaa 1091–1205UCSCPWWP domain

Gene Aliases

HGNC Name

bromodomain and PHD finger containing 1

HGNC Alias Symbol

BR140

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001003694.2

p.F362_A363del2

c.1084_1088del6

Surrounding Variants

1 paper

NM_001003694.2

p.C361S

c.1082G>C

1 paper

NM_001003694.2

p.C361S

c.1081T>A

1 paper

NM_001003694.2

p.A363T

c.1087G>A

2 papers

NM_001003694.2

p.T365M

c.1094C>T

1 paper

NM_001003694.2

p.L368delFs

c.1102delC

3 papers

NM_001003694.2

p.E369D

c.1107G>C

3 papers

NM_001003694.2

p.E369D

c.1107G>T

3 papers

NM_001003694.2

p.P370S

c.1108C>T

1 paper

NM_001003694.2

p.I371_I374del4

c.1111_1121del12

3 papers

NM_001003694.2

p.V352L

c.1054G>C

3 papers

NM_001003694.2

p.V352L

c.1054G>T

1 paper

NM_001003694.2

p.V351fs

c.1051_1052fs