Varaico: Literature-Extracted Genetic Variants

SMARCB1

964 papers

RefSeq Summary

The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear ...

Pfam Domains

INI1_DNA-bdaa 13–104UCSCSWI/SNF Subunit INI1, DNA binding domain

SNF5aa 179–373UCSCSNF5 / SMARCB1 / INI1

Gene Aliases

HGNC Name

SWI/SNF related BAF chromatin remodeling complex subunit B1

HGNC Previous Symbol

SNF5L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003073.5

p.R373Splc

c.1119-9C>G

Surrounding Variants

1 paper

NM_003073.5

p.R373Splc

c.1119-9C>A

1 paper

NM_003073.5

p.R373Splc

c.1119-9C>T

1 paper

NM_003073.5

p.R373Splc

c.1119-10C>A

1 paper

NM_003073.5

p.R373Splc

c.1119-10C>G

1 paper

NM_003073.5

p.R373Splc

c.1119-10C>T

1 paper

NM_003073.5

p.R373Splc

c.1119-8T>A

1 paper

NM_003073.5

p.R373Splc

c.1119-8T>C

1 paper

NM_003073.5

p.R373Splc

c.1119-8T>G

1 paper

NM_003073.5

p.R373Splc

c.1119-7C>A

1 paper

NM_003073.5

p.R373Splc

c.1119-7C>G

1 paper

NM_003073.5

p.R373Splc

c.1119-7C>T

1 paper

NM_003073.5

p.R373Splc

c.1119-11T>A