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

6 papers

NM_001405607.1

p.N258fs

c.772_773fs

Surrounding Variants

1 paper

NM_001405607.1

p.N258D

c.772A>G

1 paper

NM_001405607.1

p.N258I

c.773A>T

9 papers

NM_001405607.1

p.N258fs

c.772_773fs

6 papers

NM_001405607.1

p.N258insFs

c.773dupA

2 papers

NM_001405607.1

p.N258delFs

c.773delT

1 paper

NM_001405607.1

p.A259V

c.776C>T

1 paper

NM_001405607.1

p.A259D

c.776C>A

1 paper

NM_001405607.1

p.A256insFs

c.767_768insA

1 paper

NM_001405607.1

p.A256P

c.766G>C

4 papers

NM_001405607.1

p.A256T

c.766G>A

1 paper

NM_001405607.1

p.K260fs

c.778_779fs

1 paper

NM_001405607.1

p.L255P

c.764T>C