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.R556G

c.1666A>G

Surrounding Variants

1 paper

NM_001405555.1

p.R540S

c.1620A>T

1 paper

NM_001405555.1

p.R540S

c.1620A>C

1 paper

NM_001405555.1

p.R540T

c.1619G>C

1 paper

NM_001405607.1

p.C558Y

c.1673G>A

1 paper

NM_001405607.1

p.C558W

c.1674T>G

1 paper

NM_001405607.1

p.G552delFs

c.1654delC

2 papers

NM_001405607.1

p.P551R

c.1652C>G

1 paper

NM_001405607.1

p.L560fs

c.1678_1679fs

1 paper

NM_001405607.1

p.F561L

c.1681T>C

1 paper

NM_001405607.1

p.F561L

c.1683T>G

1 paper

NM_001405607.1

p.F561L

c.1683T>A

1 paper

NM_001405607.1

p.E550K

c.1648G>A