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.D143_A144insFs

c.429_430ins11

Surrounding Variants

1 paper

NM_003073.5

p.H140Y

c.418C>T

1 paper

NM_003073.5

p.H140_H141insFs

c.420_421insC

1 paper

NM_003073.5

p.S139S

c.417C>T

1 paper

NM_003073.5

p.H141Y

c.421C>T

1 paper

NM_003073.5

p.H140delFs

c.418delC

1 paper

NM_003073.5

p.H141R

c.422A>G

1 paper

NM_003073.5

p.H141L

c.422A>T

1 paper

NM_003073.5

p.S138S

c.414C>T

1 paper

NM_003073.5

p.S139_D143del5

c.415_428del15

1 paper

NM_003073.5

p.S138N

c.413G>A

1 paper

NM_003073.5

p.L142I

c.424T>A

2 papers

NM_003073.5

p.L142*

c.425T>A