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.Y217*

c.651T>A

Surrounding Variants

1 paper

NM_001405607.1

p.Y217*

c.651T>G

1 paper

NM_001405607.1

p.Y217_P218insT

c.649_653ins3

2 papers

NM_001405607.1

p.Q216fs

c.646_647fs

1 paper

NM_001405607.1

p.Q216*

c.646C>T

1 paper

NM_001405607.1

p.Q216E

c.646C>G

1 paper

NM_001405607.1

p.D219E

c.657T>G

1 paper

NM_001405607.1

p.D219E

c.657T>A

1 paper

NM_001405607.1

p.V215_Q216Splc

c.646-2A>T

1 paper

NM_001405607.1

p.V215_Q216Splc

c.646-2A>G

1 paper

NM_001405607.1

p.Y220C

c.659A>G

1 paper

NM_001405607.1

p.V215_Q216Splc

c.646-4C>T

2 papers

NM_001405607.1

p.V215_Q216Splc

c.646-5T>G