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.Q238_N239Splc

c.715-1G>A

Surrounding Variants

1 paper

NM_001405607.1

p.Q238_N239Splc

c.715-1G>C

2 papers

NM_001405607.1

p.N239fs

c.715_716fs

2 papers

NM_001405607.1

p.Q238_N239Splc

c.715-2A>G

1 paper

NM_001405607.1

p.N239delFs

c.716delT

1 paper

NM_001405607.1

p.Q238_N239Splc

c.715-4G>T

1 paper

NM_001405607.1

p.G240A

c.719G>C

3 papers

NM_001405607.1

p.Q238_N239Splc

c.715-8T>G

1 paper

NM_001405607.1

p.S241fs

c.721_722fs

1 paper

NM_001405607.1

p.S241C

c.721A>T

1 paper

NM_001405607.1

p.S241N

c.722G>A

1 paper

NM_001405607.1

p.Y242H

c.724T>C

1 paper

NM_001405607.1

p.Y242C

c.725A>G