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.N616Y

c.1846A>T

Surrounding Variants

1 paper

NM_001405607.1

p.N616I

c.1847A>T

1 paper

NM_001405555.1

p.N601K

c.1803T>G

1 paper

NM_001405555.1

p.N601K

c.1803T>A

2 papers

NM_001405607.1

p.E617insFs

c.1850_1851insT

1 paper

NM_001405607.1

p.E618K

c.1852G>A

1 paper

NM_001405607.1

p.H614D

c.1840C>G

1 paper

NM_001405607.1

p.E618D

c.1854G>T

1 paper

NM_001405607.1

p.R613insFs

c.1838_1839insT

1 paper

NM_001405607.1

p.E618D

c.1854G>C

1 paper

NM_001405607.1

p.G619_S620insFs

c.1857_1858insA

1 paper

NM_001405607.1

p.S620fs

c.1858_1859fs

1 paper

NM_001405607.1

p.Q621K

c.1861C>A