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

2 papers

NM_001405607.1

p.K284delFs

c.851delT

Surrounding Variants

2 papers

NM_001405607.1

p.K284fs

c.850_851fs

1 paper

NM_001405607.1

p.Y281_A285delFs

c.842_854del13

2 papers

NM_001405607.1

p.E286*

c.856G>T

2 papers

NM_001405607.1

p.E286K

c.856G>A

1 paper

NM_001405607.1

p.M282delFs

c.845_846delCA

1 paper

NM_001405607.1

p.M282fs

c.844_845fs

1 paper

NM_001405607.1

p.E286D

c.858A>T

1 paper

NM_001405607.1

p.E286D

c.858A>C

1 paper

NM_001405607.1

p.K283_E286delFs

c.847_857del11

3 papers

NM_001405607.1

p.Y281fs

c.841_842fs

1 paper

NM_001405607.1

p.Y281delFs

c.842delT

1 paper

NM_001405607.1

p.E288*

c.862G>T