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.T261P

c.781A>C

Surrounding Variants

1 paper

NM_001405607.1

p.K260fs

c.778_779fs

1 paper

NM_001405607.1

p.Y262F

c.785A>T

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.A259V

c.776C>T

1 paper

NM_001405607.1

p.A259D

c.776C>A

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.N263fs

c.787_788fs

1 paper

NM_001405607.1

p.N263K

c.789T>A