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.E303Q

c.907G>C

Surrounding Variants

1 paper

NM_001003694.2

p.Q302*

c.904C>T

1 paper

NM_001003694.2

p.H301P

c.902A>C

1 paper

NM_001003694.2

p.V300M

c.898G>A

1 paper

NM_001003694.2

p.A299V

c.896C>T

4 papers

NM_001003694.2

p.L298P

c.893T>C

1 paper

NM_001003694.2

p.P308T

c.922C>A

1 paper

NM_001003694.2

p.N297S

c.890A>G

1 paper

NM_001003694.2

p.M295V

c.883A>G

2 papers

NM_001003694.2

p.M295fs

c.883_884fs

1 paper

NM_001003694.2

p.P311S

c.931C>T

2 papers

NM_001003694.2

p.M295delFs

c.883_884delAT

1 paper

NM_001003694.2

p.D294A

c.881A>C