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.V269I

c.805G>A

Surrounding Variants

2 papers

NM_001405607.1

p.Q268L

c.803A>T

1 paper

NM_001405607.1

p.F270L

c.808T>C

3 papers

NM_001405607.1

p.Q268*

c.802C>T

1 paper

NM_001405607.1

p.F270L

c.810C>G

1 paper

NM_001405607.1

p.S267C

c.800C>G

2 papers

NM_001405607.1

p.F270fs

c.808_809fs

1 paper

NM_001405607.1

p.F270L

c.810C>A

1 paper

NM_001405607.1

p.F270insFs

c.810dupC

1 paper

NM_001405607.1

p.F270delFs

c.810delG

1 paper

NM_001405607.1

p.K271_D272Splc

c.813+1G>C

1 paper

NM_001405607.1

p.K271_D272Splc

c.813+1G>A

2 papers

NM_001405607.1

p.K271del1

c.811_812delCTT