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.E931G

c.2792A>G

Surrounding Variants

1 paper

NM_001405607.1

p.I929_E931delFs

c.2787_2791del5

1 paper

NM_001405607.1

p.D932H

c.2794G>C

1 paper

NM_001405607.1

p.D932N

c.2794G>A

1 paper

NM_001405607.1

p.E930delFs

c.2789delT

1 paper

NM_001405607.1

p.K933*

c.2797A>T

2 papers

NM_001405607.1

p.K933T

c.2798A>C

1 paper

NM_001405607.1

p.L934L

c.2800C>T

2 papers

NM_001405607.1

p.K935T

c.2804A>C

2 papers

NM_001405607.1

p.K935delins

c.2804_2805delinsCT

1 paper

NM_001405607.1

p.E923delFs

c.2768delT

1 paper

NM_001405607.1

p.E939*

c.2815G>T

1 paper

NM_001405607.1

p.E923K

c.2767G>A