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.G2V

c.5G>T

Surrounding Variants

1 paper

NM_001405607.1

p.G2_S3ins1

c.6_7insGAG

1 paper

NM_001405607.1

p.G2fs

c.4_5fs

1 paper

NM_001405607.1

p.G2_S3ins1

c.6_7insGAA

3 papers

NM_001405607.1

p.G2delFs

c.5delC

1 paper

NM_001405607.1

p.G2ins1

c.4_5insAGG

3 papers

NM_001405607.1

p.G2delins

c.4delinsA

3 papers

NM_001405607.1

p.G2Fs

c.4delinsTAFs

2 papers

NM_001405607.1

p.S3T

c.7T>A

2 papers

NM_001405607.1

p.M1insFs

c.2_3insT

2 papers

NM_001405607.1

p.M1_G2insFs

c.3_4insA

2 papers

NM_001405607.1

p.M1delFs

c.2delA

1 paper

NM_001405607.1

p.S3F

c.8C>T