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Gene | TSC2 |
Variant | T1075I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | TSC2 T1075I does not lie within any known functional domains of the Tsc2 protein (UniProt.org). T1075I results in Tsc1, Tsc2, and S6k expression (PMID: 21309039) and inhibition of S6k phosphorylation similar to wild-type Tsc2 in cell culture (PMID: 18854862, PMID: 21309039), and therefore, is predicted to have no effect on Tsc2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 T1075I |
Transcript | NM_000548.5 |
gDNA | chr16:g.2079368C>T |
cDNA | c.3224C>T |
Protein | p.T1075I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001114382.2 | chr16:g.2079368C>T | c.3224C>T | p.T1075I | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2079368C>T | c.3224C>T | p.T1075I | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2079368C>T | c.3224C>T | p.T1075I | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2079368C>T | c.3224C>T | p.T1075I | RefSeq | GRCh38/hg38 |
XM_011522636.2 | chr16:g.2079368C>T | c.3224C>T | p.T1075I | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.2079368C>T | c.3224C>T | p.T1075I | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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