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.P407A

c.1219C>G

Surrounding Variants

1 paper

NM_001405607.1

p.P407T

c.1219C>A

1 paper

NM_001405607.1

p.L403_P407del5

c.1207_1220del15

1 paper

NM_001405607.1

p.E406*

c.1216G>T

1 paper

NM_001405607.1

p.E406K

c.1216G>A

2 papers

NM_001405607.1

p.F408S

c.1223T>C

1 paper

NM_001405607.1

p.Y409fs

c.1225_1226fs

2 papers

NM_001405607.1

p.Y409delFs

c.1225delA

2 papers

NM_001405607.1

p.L403delFs

c.1209delT

1 paper

NM_001405607.1

p.Y409fs

c.1225_1226fs

1 paper

NM_001405607.1

p.H410Y

c.1228C>T

1 paper

NM_001405607.1

p.S395_L403delFs

c.1184_1209del26

1 paper

NM_001405607.1

p.L403L

c.1209A>T