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.R300delFs

c.898delT

Surrounding Variants

1 paper

NM_001405607.1

p.R300Splc

c.899+1G>A

1 paper

NM_001405607.1

p.R300G

c.898A>G

1 paper

NM_001405607.1

p.R300Splc

c.899+2T>C

2 papers

NM_001405607.1

p.R298fs

c.892_893fs

1 paper

NM_001405607.1

p.R298Q

c.893G>A

6 papers

NM_001405607.1

p.R298*

c.892C>T

1 paper

NM_001405607.1

p.S296delFs

c.886delT

1 paper

NM_001405607.1

p.S295L

c.884C>T

1 paper

NM_001405607.1

p.A293fs

c.877_878fs

2 papers

NM_001405607.1

p.A293D

c.878C>A

1 paper

NM_001405607.1

p.M292L

c.874A>T

1 paper

NM_001405607.1

p.M292L

c.874A>C