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.S383*

c.1148C>A

Surrounding Variants

3 papers

NM_001405607.1

p.S383*

c.1148C>G

1 paper

NM_001405607.1

p.D381D

c.1143T>C

1 paper

NM_001405607.1

p.P385H

c.1154C>A

1 paper

NM_001405607.1

p.P385fs

c.1153_1154fs

1 paper

NM_001405607.1

p.F386fs

c.1156_1157fs

2 papers

NM_001405607.1

p.F379fs

c.1135_1136fs

1 paper

NM_001405607.1

p.Y387insFs

c.1159_1160insT

1 paper

NM_001405607.1

p.Y387fs

c.1159_1160fs

1 paper

NM_001405607.1

p.Y387*

c.1161T>G

1 paper

NM_001405607.1

p.S378delFs

c.1134delG

3 papers

NM_001405607.1

p.Q388*

c.1162C>T

2 papers

NM_001405607.1

p.S371_T377delFs

c.1112_1131del20