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.E183fs

c.547_548fs

Surrounding Variants

1 paper

NM_001003694.2

p.R182Q

c.545G>A

1 paper

NM_001003694.2

p.E183delFs

c.547delG

1 paper

NM_001003694.2

p.Y181delFs

c.542delA

3 papers

NM_001003694.2

p.Q186*

c.556C>T

2 papers

NM_001003694.2

p.D187fs

c.559_560fs

2 papers

NM_001003694.2

p.P189delFs

c.567delT

2 papers

NM_001003694.2

p.D190fs

c.568_569fs

1 paper

NM_001003694.2

p.A170V

c.509C>T

1 paper

NM_001003694.2

p.Y199C

c.596A>G

1 paper

NM_001003694.2

p.R200Splc

c.599+1G>T

1 paper

NM_001003694.2

p.N161K

c.483C>A

1 paper

NM_001003694.2

p.N161K

c.483C>G