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

1–12 of 1604 variants

21 papers

NM_001405607.1

p.I279fs

c.835_836fs

12 papers

NM_001405607.1

p.I279delFs

c.835delT

10 papers

NM_001405607.1

p.I279fs

c.835_836fs

9 papers

NM_001405607.1

p.N258fs

c.772_773fs

8 papers

NM_001405607.1

p.T232P

c.694A>C

6 papers

NM_001405607.1

p.N258fs

c.772_773fs

6 papers

NM_001405607.1

p.N258insFs

c.773dupA

6 papers

NM_001405607.1

p.I279insFs

c.835dupA

6 papers

NM_001405607.1

p.R298*

c.892C>T

6 papers

NM_001405607.1

p.R365C

c.1093C>T

6 papers

NM_001405607.1

p.R534*

c.1600A>T

6 papers

NM_001405607.1

p.R921*

c.2761A>T