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.C396fs

c.1186_1187fs

Surrounding Variants

2 papers

NM_001405607.1

p.C396delFs

c.1186delA

2 papers

NM_001405607.1

p.R397W

c.1189C>T

1 paper

NM_001405607.1

p.R397L

c.1190G>T

2 papers

NM_001405607.1

p.R397Q

c.1190G>A

1 paper

NM_001405607.1

p.S395N

c.1184G>A

2 papers

NM_001405607.1

p.N398D

c.1192A>G

1 paper

NM_001405607.1

p.S395fs

c.1183_1184fs

1 paper

NM_001405607.1

p.R394K

c.1181G>A

2 papers

NM_001405607.1

p.V393fs

c.1177_1178fs

1 paper

NM_001405607.1

p.N399fs

c.1195_1196fs

2 papers

NM_001405607.1

p.Q400K

c.1198C>A

2 papers

NM_001405607.1

p.V393_R394insA

c.1177_1181ins3