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.A1091D

c.3272C>A

Surrounding Variants

1 paper

NM_001003694.2

p.P1088L

c.3263C>T

5 papers

NM_001003694.2

p.R1100*

c.3298C>T

1 paper

NM_001003694.2

p.S1082L

c.3245C>T

1 paper

NM_001003694.2

p.S1073N

c.3218G>A

1 paper

NM_001003694.2

p.M1069I

c.3207G>A

1 paper

NM_001003694.2

p.M1069I

c.3207G>A

1 paper

NM_001003694.2

p.M1069I

c.3207G>C

1 paper

NM_001003694.2

p.M1069I

c.3207G>T

2 papers

NM_001003694.2

p.T1052_E1053del2

c.3154_3158del6

1 paper

NM_001003694.2

p.R1031Q

c.3092G>A

1 paper

NM_001003694.2

p.T1025T

c.3075G>A

1 paper

NM_001003694.2

p.T1025delFs

c.3075delG