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

3 papers

NM_001003694.2

p.W478*

c.1434G>A

Surrounding Variants

1 paper

NM_001003694.2

p.W478C

c.1434G>C

1 paper

NM_001003694.2

p.W478C

c.1434G>T

3 papers

NM_001003694.2

p.W478*

c.1433G>A

1 paper

NM_001003694.2

p.V483_K484delFs

c.1447_1450del4

2 papers

NM_001003694.2

p.E474fs

c.1420_1421fs

1 paper

NM_001003694.2

p.E474insFs

c.1420dupG

1 paper

NM_001003694.2

p.A486V

c.1457C>T

2 papers

NM_001003694.2

p.R491Q

c.1472G>A

1 paper

NM_001003694.2

p.E468_E474del0

c.1404_1421del18

1 paper

NM_001003694.2

p.A497T

c.1489G>A

1 paper

NM_001003694.2

p.R498W

c.1492C>T

4 papers

NM_001003694.2

p.R455*

c.1363C>T