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.N263fs

c.787_788fs

Surrounding Variants

1 paper

NM_001405607.1

p.N263K

c.789T>A

1 paper

NM_001405607.1

p.E264*

c.790G>T

1 paper

NM_001405607.1

p.N263insFs

c.788_789dupAT

3 papers

NM_001405607.1

p.N263del1

c.787_789delATT

1 paper

NM_001405607.1

p.E264fs

c.790_791fs

1 paper

NM_001405607.1

p.E264G

c.791A>G

1 paper

NM_001405607.1

p.Y262*

c.786T>G

1 paper

NM_001405607.1

p.Y262*

c.786T>A

1 paper

NM_001405607.1

p.Y262delFs

c.785delT

1 paper

NM_001405607.1

p.Y262F

c.785A>T

1 paper

NM_001405607.1

p.T261P

c.781A>C

1 paper

NM_001405607.1

p.S267C

c.800C>G