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

2 papers

NM_001405607.1

p.I245F

c.733A>T

Surrounding Variants

1 paper

NM_001405607.1

p.H246D

c.736C>G

1 paper

NM_001405607.1

p.S244C

c.730A>T

1 paper

NM_001405607.1

p.S244G

c.730A>G

1 paper

NM_001405607.1

p.N239_K243delFs

c.715_727del13

1 paper

NM_001405607.1

p.K243I

c.728A>T

2 papers

NM_001405607.1

p.K243*

c.727A>T

1 paper

NM_001405607.1

p.A247V

c.740C>T

1 paper

NM_001405607.1

p.Y242*

c.726C>G

1 paper

NM_001405607.1

p.Y242*

c.726C>A

1 paper

NM_001405607.1

p.Y242C

c.725A>G

1 paper

NM_001405607.1

p.Y242H

c.724T>C

1 paper

NM_001405607.1

p.M248fs

c.742_743fs