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

2 papers

NM_001405607.1

p.E878fs

c.2632_2633fs

Surrounding Variants

2 papers

NM_001405607.1

p.E878delFs

c.2634delT

1 paper

NM_001405607.1

p.E878*

c.2632G>T

1 paper

NM_001405607.1

p.Y877*

c.2631T>G

1 paper

NM_001405607.1

p.Y877*

c.2631T>A

1 paper

NM_001405607.1

p.A880E

c.2639C>A

1 paper

NM_001405607.1

p.S874A

c.2620T>G

1 paper

NM_001405607.1

p.D873E

c.2619T>G

1 paper

NM_001405607.1

p.Q884H

c.2652G>T

2 papers

NM_001405607.1

p.T872_D873insFs

c.2616_2617insT

1 paper

NM_001405607.1

p.F887delFs

c.2659delA

2 papers

NM_001405607.1

p.I888insFs

c.2662_2663insA

2 papers

NM_001405607.1

p.E893G

c.2678A>G