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.A273V

c.818C>T

Surrounding Variants

1 paper

NM_001405607.1

p.A273T

c.817G>A

2 papers

NM_001405607.1

p.D272fs

c.814_815fs

2 papers

NM_001405607.1

p.D272delFs

c.815delT

1 paper

NM_001405607.1

p.D272N

c.814G>A

1 paper

NM_001405607.1

p.S275A

c.823T>G

1 paper

NM_001405607.1

p.K271_D272Splc

c.814-1G>A

2 papers

NM_001405607.1

p.S275L

c.824C>T

1 paper

NM_001405607.1

p.I276V

c.826A>G

1 paper

NM_001405607.1

p.I276_K277insFs

c.828_829insA

2 papers

NM_001405607.1

p.K277*

c.829A>T

1 paper

NM_001405607.1

p.K277K

c.831A>G

1 paper

NM_001405607.1

p.K278E

c.832A>G