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

7 papers

NM_001003694.2

p.R66C

c.196C>T

Surrounding Variants

2 papers

NM_001003694.2

p.Q67P

c.200A>C

1 paper

NM_001003694.2

p.K64R

c.191A>G

1 paper

NM_001003694.2

p.R69H

c.206G>A

2 papers

NM_001003694.2

p.R59H

c.176G>A

2 papers

NM_001003694.2

p.R59C

c.175C>T

3 papers

NM_001003694.2

p.P76L

c.227C>T

1 paper

NM_001003694.2

p.V81A

c.242T>C

1 paper

NM_001003694.2

p.Q83delFs

c.247_248delCA

1 paper

NM_001003694.2

p.S82S

c.246A>C

1 paper

NM_001003694.2

p.Q83fs

c.247_248fs

1 paper

NM_001003694.2

p.Y45C

c.134A>G

1 paper

NM_001003694.2

p.S91insFs

c.271dupA