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.714+2T>C

Surrounding Variants

1 paper

NM_001405607.1

p.R236_Q238delFs

c.707_713del7

1 paper

NM_001405607.1

p.Q238_N239Splc

c.714+1G>T

1 paper

NM_001405607.1

p.Q238H

c.714G>T

1 paper

NM_001405607.1

p.Q238H

c.714G>C

3 papers

NM_001405607.1

p.Q238*

c.712C>T

1 paper

NM_001405607.1

p.R236delFs

c.706_707delCT

1 paper

NM_001405607.1

p.R236K

c.707G>A

1 paper

NM_001405607.1

p.Q235H

c.705G>T

1 paper

NM_001405607.1

p.Q235H

c.705G>C

1 paper

NM_001405607.1

p.Q235fs

c.703_704fs

1 paper

NM_001405607.1

p.Q235*

c.703C>T

1 paper

NM_001405607.1

p.Q235K

c.703C>A