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.M38I

c.114G>T

Surrounding Variants

1 paper

NM_003073.5

p.M38I

c.114G>A

1 paper

NM_003073.5

p.M38I

c.114G>C

1 paper

NM_003073.5

p.F39insFs

c.116dupT

1 paper

NM_003073.5

p.F39del1

c.115_116delTTC

1 paper

NM_003073.5

p.F39L

c.115T>C

2 papers

NM_003073.5

p.M38_F39insFs

c.114_115insG

1 paper

NM_003073.5

p.F39fs

c.115_116fs

5 papers

NM_003073.5

p.R40delFs

c.118delC

1 paper

NM_003073.5

p.F39L

c.117C>A

1 paper

NM_003073.5

p.F39L

c.117C>G

4 papers

NM_003073.5

p.F39F

c.117C>T

1 paper

NM_003073.5

p.R40fs

c.118_119fs