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_001405555.1

p.Y558H

c.1672T>C

Surrounding Variants

2 papers

NM_001405607.1

p.D572Y

c.1714G>T

1 paper

NM_001405607.1

p.D572insFs

c.1714_1715insTT

1 paper

NM_001405607.1

p.D572N

c.1714G>A

1 paper

NM_001405607.1

p.Y573_Y574delFs

c.1719_1720delAA

1 paper

NM_001405555.1

p.P556S

c.1666C>T

1 paper

NM_001405607.1

p.Y573_Y574del2

c.1717_1721del6

2 papers

NM_001405607.1

p.Y570insFs

c.1709_1710insT

1 paper

NM_001405607.1

p.K568N

c.1704G>C

1 paper

NM_001405607.1

p.I577insFs

c.1730_1731insT

1 paper

NM_001405607.1

p.S566Y

c.1697C>A

1 paper

NM_001405607.1

p.D582Y

c.1744G>T

1 paper

NM_001405607.1

p.D582N

c.1744G>A