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.S260insFs

c.779dupG

Surrounding Variants

1 paper

NM_001003694.2

p.S260fs

c.778_779fs

1 paper

NM_001003694.2

p.E259G

c.776A>G

1 paper

NM_001003694.2

p.F258S

c.773T>C

1 paper

NM_001003694.2

p.E255_S256delFs

c.763_766del4

1 paper

NM_001003694.2

p.P266H

c.797C>A

3 papers

NM_001003694.2

p.E253G

c.758A>G

1 paper

NM_001003694.2

p.A268V

c.803C>T

1 paper

NM_001003694.2

p.R251Q

c.752G>A

1 paper

NM_001003694.2

p.R251*

c.751C>T

1 paper

NM_001003694.2

p.E272K

c.814G>A

1 paper

NM_001003694.2

p.Y247N

c.739T>A

1 paper

NM_001003694.2

p.C277S

c.829T>A