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

3 papers

NM_001405607.1

p.Y417fs

c.1249_1250fs

Surrounding Variants

2 papers

NM_001405607.1

p.K416insFs

c.1248dupA

4 papers

NM_001405607.1

p.K416delFs

c.1248delT

1 paper

NM_001405607.1

p.K415_K416del2

c.1243_1247del6

1 paper

NM_001405607.1

p.Y417C

c.1250A>G

5 papers

NM_001405607.1

p.K416fs

c.1246_1247fs

2 papers

NM_001405607.1

p.Y417*

c.1251C>G

5 papers

NM_001405607.1

p.Y417fs

c.1249_1250fs

2 papers

NM_001405607.1

p.Y417*

c.1251C>A

1 paper

NM_001405607.1

p.Y417Fs

c.1249_1251delinsAAFs

1 paper

NM_001405607.1

p.P418H

c.1253C>A

3 papers

NM_001405607.1

p.P418fs

c.1252_1253fs

2 papers

NM_001405607.1

p.P418delFs

c.1253delG