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

4 papers

NM_001003694.2

p.W348R

c.1042T>C

Surrounding Variants

4 papers

NM_001003694.2

p.W348R

c.1042T>A

1 paper

NM_001003694.2

p.W348*

c.1044G>A

1 paper

NM_001003694.2

p.R347L

c.1040G>T

3 papers

NM_001003694.2

p.R347C

c.1039C>T

2 papers

NM_001003694.2

p.V351delFs

c.1052_1053delTG

1 paper

NM_001003694.2

p.V351fs

c.1051_1052fs

3 papers

NM_001003694.2

p.V351fs

c.1051_1052fs

3 papers

NM_001003694.2

p.V352L

c.1054G>C

1 paper

NM_001003694.2

p.D344H

c.1030G>C

3 papers

NM_001003694.2

p.V352L

c.1054G>T

1 paper

NM_001003694.2

p.C361S

c.1081T>A

1 paper

NM_001003694.2

p.C361S

c.1082G>C