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

9 papers

NM_003073.5

p.E122*

c.364G>T

Surrounding Variants

1 paper

NM_003073.5

p.E122K

c.364G>A

3 papers

NM_003073.5

p.E122fs

c.364_365fs

3 papers

NM_003073.5

p.E122D

c.366A>C

3 papers

NM_003073.5

p.E122D

c.366A>T

2 papers

NM_003073.5

p.R121Splc

c.363-1G>A

1 paper

NM_003073.5

p.R121Splc

c.363-1G>T

3 papers

NM_003073.5

p.E122delFs

c.364delG

6 papers

NM_003073.5

p.Q123*

c.367C>T

2 papers

NM_003073.5

p.Q123_K124delFs

c.369_370delGA

1 paper

NM_003073.5

p.Q123H

c.369G>C

1 paper

NM_003073.5

p.Q123H

c.369G>T

1 paper

NM_003073.5

p.K124fs

c.370_371fs