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

13 papers

NM_003073.5

p.P14H

c.41C>A

Surrounding Variants

4 papers

NM_003073.5

p.P14S

c.40C>T

1 paper

NM_003073.5

p.K13N

c.39G>C

1 paper

NM_003073.5

p.K13T

c.38A>C

1 paper

NM_003073.5

p.V15E

c.44T>A

1 paper

NM_003073.5

p.V15A

c.44T>C

1 paper

NM_003073.5

p.V15G

c.44T>G

1 paper

NM_003073.5

p.K13fs

c.37_38fs

1 paper

NM_003073.5

p.K13Q

c.37A>C

1 paper

NM_003073.5

p.K13E

c.37A>G

1 paper

NM_003073.5

p.K13*

c.37A>T

5 papers

NM_003073.5

p.K13fs

c.37_38fs

1 paper

NM_003073.5

p.V15V

c.45G>A