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.R365_G369delFs

c.1095_1105del11

Surrounding Variants

1 paper

NM_001405607.1

p.G369*

c.1105G>T

2 papers

NM_001405607.1

p.E368*

c.1102G>T

1 paper

NM_001405607.1

p.E368Q

c.1102G>C

3 papers

NM_001405607.1

p.S371*

c.1112C>G

3 papers

NM_001405607.1

p.S371*

c.1112C>A

1 paper

NM_001405607.1

p.E367V

c.1100A>T

2 papers

NM_001405607.1

p.S371fs

c.1111_1112fs

1 paper

NM_001405607.1

p.E372*

c.1114G>T

1 paper

NM_001405607.1

p.E372Q

c.1114G>C

4 papers

NM_001405607.1

p.Y366C

c.1097A>G

1 paper

NM_001405607.1

p.E372A

c.1115A>C

1 paper

NM_001405607.1

p.E368_E372delFs

c.1104_1114del11