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

6 papers

NM_001405607.1

p.R921*

c.2761A>T

Surrounding Variants

1 paper

NM_001405607.1

p.K919_R921del0

c.2756_2761del6

1 paper

NM_001405607.1

p.K919_E920delFs

c.2755_2759del5

2 papers

NM_001405607.1

p.E920*

c.2758G>T

2 papers

NM_001405607.1

p.K919T

c.2756A>C

1 paper

NM_001405607.1

p.E923K

c.2767G>A

1 paper

NM_001405607.1

p.K919Q

c.2755A>C

1 paper

NM_001405607.1

p.E923delFs

c.2768delT

2 papers

NM_001405607.1

p.V917L

c.2749G>T

1 paper

NM_001405607.1

p.D916N

c.2746G>A

2 papers

NM_001405607.1

p.N915Y

c.2743A>T

1 paper

NM_001405607.1

p.E930delFs

c.2789delT

1 paper

NM_001405607.1

p.E931G

c.2792A>G