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.I586N

c.1757T>A

Surrounding Variants

1 paper

NM_001405607.1

p.I586T

c.1757T>C

1 paper

NM_001405607.1

p.E587G

c.1760A>G

2 papers

NM_001405607.1

p.N589I

c.1766A>T

1 paper

NM_001405607.1

p.M581_D582del2

c.1741_1745del6

1 paper

NM_001405607.1

p.I590V

c.1768A>G

1 paper

NM_001405607.1

p.I590S

c.1769T>G

1 paper

NM_001405607.1

p.I590N

c.1769T>A

1 paper

NM_001405607.1

p.D582Y

c.1744G>T

1 paper

NM_001405607.1

p.D582N

c.1744G>A

1 paper

NM_001405607.1

p.P580_M581del2

c.1738_1742del6

1 paper

NM_001405555.1

p.R576C

c.1726C>T

1 paper

NM_001405555.1

p.R576L

c.1727G>T