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.P427P

c.1281C>T

Surrounding Variants

1 paper

NM_001405607.1

p.P427fs

c.1279_1280fs

1 paper

NM_001405607.1

p.P427R

c.1280C>G

1 paper

NM_001405607.1

p.S429*

c.1286C>G

1 paper

NM_001405607.1

p.S429*

c.1286C>A

1 paper

NM_001405607.1

p.K425R

c.1274A>G

1 paper

NM_001405607.1

p.I424_K425delFs

c.1272_1273delTA

1 paper

NM_001405607.1

p.K425*

c.1273A>T

2 papers

NM_001405607.1

p.K425fs

c.1273_1274fs

1 paper

NM_001405607.1

p.I424S

c.1271T>G

1 paper

NM_001405607.1

p.I424T

c.1271T>C

1 paper

NM_001405607.1

p.Q431*

c.1291C>T

1 paper

NM_001405607.1

p.Q423_I424insG

c.1267_1271ins3