Varaico: Literature-Extracted Genetic Variants

PBRM1

847 papers

RefSeq Summary

This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcription...

Pfam Domains

Bromodomainaa 54–139UCSCBromodomain

Bromodomainaa 186–275UCSCBromodomain

Bromodomainaa 392–475UCSCBromodomain

Bromodomainaa 537–613UCSCBromodomain

Bromodomainaa 666–751UCSCBromodomain

Bromodomainaa 786–867UCSCBromodomain

Gene Aliases

HGNC Name

polybromo 1

HGNC Alias Symbols

BAF180; PB1; SMARCH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001405607.1

p.P227R

c.680C>G

Surrounding Variants

2 papers

NM_001405607.1

p.P227fs

c.679_680fs

1 paper

NM_001405607.1

p.P227delFs

c.680delG

1 paper

NM_001405607.1

p.I224_E226del3

c.670_677del9

4 papers

NM_001405607.1

p.I228V

c.682A>G

1 paper

NM_001405607.1

p.I228delFs

c.682delT

2 papers

NM_001405607.1

p.E226G

c.677A>G

1 paper

NM_001405607.1

p.E226*

c.676G>T

2 papers

NM_001405607.1

p.E226Q

c.676G>C

1 paper

NM_001405607.1

p.I228fs

c.682_683fs

1 paper

NM_001405607.1

p.K225N

c.675G>T

1 paper

NM_001405607.1

p.K225fs

c.673_674fs

1 paper

NM_001405607.1

p.K225N

c.675G>C