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.Y406insFs

c.1217dupA

Surrounding Variants

4 papers

NM_001003694.2

p.Y406H

c.1216T>C

4 papers

NM_001003694.2

p.Y406*

c.1218C>A

4 papers

NM_001003694.2

p.Y406*

c.1218C>G

1 paper

NM_001003694.2

p.H410R

c.1229A>G

1 paper

NM_001003694.2

p.C400Y

c.1199G>A

4 papers

NM_001003694.2

p.A396fs

c.1186_1187fs

6 papers

NM_001003694.2

p.S394_G395delFs

c.1182_1183delAG

1 paper

NM_001003694.2

p.R392W

c.1174C>T

1 paper

NM_001003694.2

p.M421V

c.1261A>G

2 papers

NM_001003694.2

p.K390E

c.1168A>G

1 paper

NM_001003694.2

p.K422E

c.1264A>G

3 papers

NM_001003694.2

p.C389R

c.1165T>C