Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | TSC1 |
Variant | S35C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC1 S35C does not lie within any known functional domains of the Tsc1 protein (UniProt.org). S35C results in interaction with Tsc2 and subcellular localization similar to wild-type Tsc1 and attenuates mTor signaling in culture, however, the genomic change may lead to aberrant splicing (PMID: 18397877), and therefore, its effect on Tsc1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TSC1 mutant TSC1 S35C |
Transcript | NM_000368.5 |
gDNA | chr9:g.132928769G>C |
cDNA | c.104C>G |
Protein | p.S35C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001162427.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406610.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406603.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
XM_005272211.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406597.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406600.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406612.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406599.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406595.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406601.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
XM_017015096.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001162427.2 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406592.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406608.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406605.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406602.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406607.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
XM_017015097.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406593.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_000368.5 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406611.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406609.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406604.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_000368.4 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
XM_011518979.3 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406613.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406594.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
XM_011518979.2 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
XM_017015098.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406598.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
XM_006717271.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001162426.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406606.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001406596.1 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
NM_001162426.2 | chr9:g.132928769G>C | c.104C>G | p.S35C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|