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

5 papers

NM_001003694.2

p.E219*

c.655G>T

Surrounding Variants

1 paper

NM_001003694.2

p.E220K

c.658G>A

1 paper

NM_001003694.2

p.D221G

c.662A>G

1 paper

NM_001003694.2

p.Y215C

c.644A>G

1 paper

NM_001003694.2

p.E211D

c.633G>C

1 paper

NM_001003694.2

p.E211D

c.633G>T

2 papers

NM_001003694.2

p.E211K

c.631G>A

1 paper

NM_001003694.2

p.N229I

c.686A>T

1 paper

NM_001003694.2

p.R231H

c.692G>A

2 papers

NM_001003694.2

p.R232W

c.694C>T

1 paper

NM_001003694.2

p.V237I

c.709G>A

1 paper

NM_001003694.2

p.Y201H

c.601T>C

1 paper

NM_001003694.2

p.P239H

c.716C>A