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.A905_L906delFs

c.2715_2718del4

Surrounding Variants

1 paper

NM_001405607.1

p.L906delFs

c.2717delA

1 paper

NM_018313.5

p.Y893*

c.2679T>G

1 paper

NM_018313.5

p.Y893*

c.2679T>A

1 paper

NM_001405607.1

p.P904_A905delFs

c.2711_2714del4

2 papers

NM_001405607.1

p.A905S

c.2713G>T

1 paper

NM_001405607.1

p.A905P

c.2713G>C

1 paper

NM_001405607.1

p.T910insFs

c.2729_2730insC

1 paper

NM_001405607.1

p.T910delFs

c.2729delG

1 paper

NM_001405607.1

p.L902_S903insA

c.2704_2708ins3

1 paper

NM_001405607.1

p.L901delFs

c.2703delA

1 paper

NM_001405607.1

p.I900insFs

c.2699dupT

1 paper

NM_001405607.1

p.I900delFs

c.2700delA