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

2 papers

NM_001003694.2

p.R842W

c.2524C>T

Surrounding Variants

1 paper

NM_001003694.2

p.R833Q

c.2498G>A

5 papers

NM_001003694.2

p.R833*

c.2497C>T

1 paper

NM_001003694.2

p.P853T

c.2557C>A

1 paper

NM_001003694.2

p.R826W

c.2476C>T

1 paper

NM_001003694.2

p.K820_E821delFs

c.2459_2462del4

1 paper

NM_001003694.2

p.A867_A868delFs

c.2600_2604del5

1 paper

NM_001003694.2

p.E870Q

c.2608G>C

1 paper

NM_001003694.2

p.R811C

c.2431C>T

1 paper

NM_001003694.2

p.Q807fs

c.2419_2420fs

1 paper

NM_001003694.2

p.Q807_R811delFs

c.2420_2433del14

3 papers

NM_001003694.2

p.E801K

c.2401G>A

1 paper

NM_001003694.2

p.E801*

c.2401G>T