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

1–12 of 332 variants

7 papers

NM_001003694.2

p.R66C

c.196C>T

6 papers

NM_001003694.2

p.S394_G395delFs

c.1182_1183delAG

5 papers

NM_001003694.2

p.E219*

c.655G>T

5 papers

NM_001003694.2

p.M628_Q629insFs

c.1883_1886dup4

5 papers

NM_001003694.2

p.Q629fs

c.1885_1886fs

5 papers

NM_001003694.2

p.R833*

c.2497C>T

5 papers

NM_001003694.2

p.R1100*

c.3298C>T

4 papers

NM_001003694.2

p.L298P

c.893T>C

4 papers

NM_001003694.2

p.W348R

c.1042T>A

4 papers

NM_001003694.2

p.W348R

c.1042T>C

4 papers

NM_001003694.2

p.A396fs

c.1186_1187fs

4 papers

NM_001003694.2

p.Y406H

c.1216T>C