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.E127G

c.380A>G

Surrounding Variants

1 paper

NM_001003694.2

p.A129V

c.386C>T

1 paper

NM_001003694.2

p.P130T

c.388C>A

1 paper

NM_001003694.2

p.E124fs

c.370_371fs

1 paper

NM_001003694.2

p.E124_A125delFs

c.371_374del4

1 paper

NM_001003694.2

p.E123*

c.367G>T

3 papers

NM_001003694.2

p.E121fs

c.361_362fs

3 papers

NM_001003694.2

p.E121delFs

c.362_363delAG

1 paper

NM_001003694.2

p.T139I

c.416C>T

1 paper

NM_001003694.2

p.I110delFs

c.330delC

2 papers

NM_001003694.2

p.R109H

c.326G>A

2 papers

NM_001003694.2

p.R109C

c.325C>T

2 papers

NM_001003694.2

p.R106H

c.317G>A