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

5 papers

NM_001405607.1

p.K4N

c.12G>C

Surrounding Variants

2 papers

NM_001405607.1

p.K4K

c.12G>A

1 paper

NM_001405607.1

p.R5*

c.13A>T

1 paper

NM_001405607.1

p.K4Q

c.10A>C

1 paper

NM_001405607.1

p.S3S

c.9C>A

1 paper

NM_001405607.1

p.S3F

c.8C>T

1 paper

NM_001405607.1

p.S3insFs

c.7dupT

2 papers

NM_001405607.1

p.S3T

c.7T>A

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.G2V

c.5G>T