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.F542insFs

c.1624dupT

Surrounding Variants

1 paper

NM_001405555.1

p.N528I

c.1583A>T

1 paper

NM_001405607.1

p.N543K

c.1629T>G

1 paper

NM_001405607.1

p.V545I

c.1633G>A

2 papers

NM_001405607.1

p.I540V

c.1618A>G

1 paper

NM_001405607.1

p.K539_I540insFs

c.1617_1618insTT

2 papers

NM_001405607.1

p.M538I

c.1614G>T

NM_001405555.1

p.M523I

c.1569G>T

2 papers

NM_001405607.1

p.M538I

c.1614G>C

NM_001405555.1

p.M523I

c.1569G>C

2 papers

NM_001405607.1

p.M538I

c.1614G>A

NM_001405555.1

p.M523I

c.1569G>A

1 paper

NM_001405555.1

p.M523R

c.1568T>G

1 paper

NM_001405607.1

p.L546_E547insFs

c.1638_1639insT

1 paper

NM_001405607.1

p.L546delFs

c.1637_1638delAA

1 paper

NM_001405607.1

p.A548P

c.1642G>C