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Gene | TSC1 |
Variant | M322T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC1 M322T does not lie within any known functional domains of the Tsc1 protein (UniProt.org). M322T has been identified in the scientific literature (PMID: 29185092, PMID: 9803264, PMID: 9328481), but has not been biochemically characterized and therefore, its effect on Tsc1 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TSC1 mutant TSC1 M322T |
Transcript | NM_000368.5 |
gDNA | chr9:g.132911517A>G |
cDNA | c.965T>C |
Protein | p.M322T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011518979.2 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_000368.5 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
XM_017015097.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406595.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406605.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
XM_006717271.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406597.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406603.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406604.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406609.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
XM_011518979.3 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406607.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
XM_005272211 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001162426.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406592.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406600.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
XM_017015096 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
XM_006717271 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_000368 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406596.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001162426 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406608.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
XM_005272211.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406601.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
XM_017015098 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_000368.4 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
XM_017015097 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406602.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406606.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406593.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406598.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
XM_017015096.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406599.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
XM_017015098.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001406594.1 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
XM_011518979 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
NM_001162426.2 | chr9:g.132911517A>G | c.965T>C | p.M322T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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