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Gene | TSC1 |
Variant | S16C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC1 S16C does not lie within any known functional domains of the Tsc1 protein (UniProt.org). S16C has not been characterized in the scientific literature and therefore, its effect on Tsc1 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TSC1 mutant TSC1 S16C |
Transcript | NM_000368.5 |
gDNA | chr9:g.132928826G>C |
cDNA | c.47C>G |
Protein | p.S16C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406601.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001162426.2 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
XM_017015098 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406594.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406598.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406610.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001162427.2 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
XM_017015096.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
XM_017015097 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406600.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406605.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_000368 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_000368.5 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406608.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406613.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_000368.4 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406599.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406606.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
XM_011518979 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406602.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
XM_017015096 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
XM_017015098.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
XM_006717271.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
XM_017015097.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001162427 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
XM_006717271 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
XM_011518979.3 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001162426.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
XM_011518979.2 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406592.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406593.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406604.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406609.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406596.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001162426 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406612.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
XM_005272211 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406607.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406611.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406603.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406597.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001162427.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
XM_005272211.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
NM_001406595.1 | chr9:g.132928826G>C | c.47C>G | p.S16C | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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