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.Y366_I376del11

c.1096_1127del33

Surrounding Variants

2 papers

NM_001405607.1

p.T377S

c.1129A>T

2 papers

NM_001405607.1

p.T377S

c.1130C>G

1 paper

NM_001405607.1

p.I376M

c.1128C>G

2 papers

NM_001405607.1

p.S371_T377delFs

c.1112_1131del20

1 paper

NM_001405607.1

p.S378delFs

c.1134delG

1 paper

NM_001405607.1

p.S375C

c.1123A>T

2 papers

NM_001405607.1

p.F379fs

c.1135_1136fs

1 paper

NM_001405607.1

p.E374Q

c.1120G>C

1 paper

NM_001405607.1

p.D381D

c.1143T>C

1 paper

NM_001405607.1

p.E372A

c.1115A>C

1 paper

NM_001405607.1

p.E368_E372delFs

c.1104_1114del11

1 paper

NM_001405607.1

p.E372*

c.1114G>T