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.M628_Q629insFs

c.1883_1886dup4

Surrounding Variants

1 paper

NM_001003694.2

p.Q629insFs

c.1886dupA

5 papers

NM_001003694.2

p.Q629fs

c.1885_1886fs

1 paper

NM_001003694.2

p.M626T

c.1877T>C

1 paper

NM_001003694.2

p.E627insFs

c.1879dupG

1 paper

NM_001003694.2

p.Q623*

c.1867C>T

1 paper

NM_001003694.2

p.K620N

c.1860G>C

1 paper

NM_001003694.2

p.K620N

c.1860G>T

1 paper

NM_001003694.2

p.I619N

c.1856T>A

1 paper

NM_001003694.2

p.L637F

c.1909C>T

2 papers

NM_001003694.2

p.R638C

c.1912C>T

1 paper

NM_001003694.2

p.R638H

c.1913G>A

2 papers

NM_001003694.2

p.Q645*

c.1933C>T