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

2 papers

NM_001003694.2

p.Y35*

c.105C>A

Surrounding Variants

2 papers

NM_001003694.2

p.Y35*

c.105C>G

1 paper

NM_001003694.2

p.Y35C

c.104A>G

2 papers

NM_001003694.2

p.S36I

c.107G>T

1 paper

NM_001003694.2

p.Y35insFs

c.104dupA

1 paper

NM_001003694.2

p.E39*

c.115G>T

1 paper

NM_001003694.2

p.Y40F

c.119A>T

1 paper

NM_001003694.2

p.R29Q

c.86G>A

2 papers

NM_001003694.2

p.R29*

c.85C>T

1 paper

NM_001003694.2

p.Y45C

c.134A>G

1 paper

NM_001003694.2

p.C23R

c.67T>C

2 papers

NM_001003694.2

p.P20L

c.59C>T

1 paper

NM_001003694.2

p.A16V

c.47C>T