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.K13T

c.38A>C

Surrounding Variants

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.K13N

c.39G>C

4 papers

NM_003073.5

p.P14S

c.40C>T

1 paper

NM_003073.5

p.Q12Q

c.36G>A

1 paper

NM_003073.5

p.K13insFs

c.37_38insA

6 papers

NM_003073.5

p.K13delFs

c.38delA

13 papers

NM_003073.5

p.P14H

c.41C>A

1 paper

NM_003073.5

p.Q12K

c.34C>A