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

2 papers

NM_003073.5

p.V187delFs

c.559delG

Surrounding Variants

1 paper

NM_003073.5

p.V187insFs

c.559_560insG

1 paper

NM_003073.5

p.L186_P188insFs

c.558_564dup7

1 paper

NM_003073.5

p.L186fs

c.556_557fs

1 paper

NM_003073.5

p.L186V

c.556C>G

1 paper

NM_003073.5

p.L186fs

c.556_557fs

1 paper

NM_003073.5

p.V187I

c.559G>A

1 paper

NM_003073.5

p.V187fs

c.559_560fs

1 paper

NM_003073.5

p.V187fs

c.559_560fs

3 papers

NM_003073.5

p.P188delFs

c.564delC

1 paper

NM_003073.5

p.V185M

c.553G>A

1 paper

NM_003073.5

p.V185L

c.553G>T

2 papers

NM_003073.5

p.P188S

c.562C>T