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.I365fs

c.1093_1094fs

Surrounding Variants

1 paper

NM_003073.5

p.I365fs

c.1093_1094fs

1 paper

NM_003073.5

p.I365L

c.1093A>C

2 papers

NM_003073.5

p.I365V

c.1093A>G

1 paper

NM_003073.5

p.I365F

c.1093A>T

1 paper

NM_003073.5

p.K364K

c.1092G>A

3 papers

NM_003073.5

p.K364N

c.1092G>C

3 papers

NM_003073.5

p.K364N

c.1092G>T

1 paper

NM_003073.5

p.I365N

c.1094T>A

1 paper

NM_003073.5

p.I365T

c.1094T>C

1 paper

NM_003073.5

p.I365S

c.1094T>G

3 papers

NM_003073.5

p.K364T

c.1091A>C

5 papers

NM_003073.5

p.K364R

c.1091A>G