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.K8R

c.23A>G

Surrounding Variants

1 paper

NM_003073.5

p.K8E

c.22A>G

1 paper

NM_003073.5

p.K8*

c.22A>T

2 papers

NM_003073.5

p.K8N

c.24G>C

2 papers

NM_003073.5

p.K8N

c.24G>T

1 paper

NM_003073.5

p.T9P

c.25A>C

1 paper

NM_003073.5

p.T9A

c.25A>G

1 paper

NM_003073.5

p.T9S

c.25A>T

1 paper

NM_003073.5

p.S7S

c.21C>T

1 paper

NM_003073.5

p.T9N

c.26C>A

1 paper

NM_003073.5

p.T9S

c.26C>G

2 papers

NM_003073.5

p.T9I

c.26C>T

3 papers

NM_003073.5

p.S7_V15Fs

c.20_43delinsTFs