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.G33fs

c.97_98fs

Surrounding Variants

1 paper

NM_003073.5

p.V32V

c.96G>A

1 paper

NM_003073.5

p.G33insFs

c.98dupG

2 papers

NM_003073.5

p.V32delFs

c.96delG

1 paper

NM_003073.5

p.N34fs

c.100_101fs

1 paper

NM_003073.5

p.V32M

c.94G>A

1 paper

NM_003073.5

p.V32L

c.94G>C

2 papers

NM_003073.5

p.V32L

c.94G>T

1 paper

NM_003073.5

p.N34insFs

c.102dupC

1 paper

NM_003073.5

p.Y35_L36del2

c.103_107del6

1 paper

NM_003073.5

p.E31_V32Splc

c.94-1G>A

1 paper

NM_003073.5

p.Y35*

c.105C>A

1 paper

NM_003073.5

p.Y35*

c.105C>G