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Gene | TSC2 |
Variant | G1416D |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | TSC2 G1416D (corresponding to G1439D in the canonical isoform) does not lie within any known functional domains of the Tsc2 protein (UniProt.org). G1416D results in Tsc1, Tsc2, and S6k expression (PMID: 21309039) and inhibition of S6k phosphorylation similar to wild-type Tsc2 in cell culture (PMID: 18854862), and therefore, is predicted to have no effect on Tsc2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 G1416D |
Transcript | NM_001114382.3 |
gDNA | chr16:g.2084538G>A |
cDNA | c.4247G>A |
Protein | p.G1416D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001318831.2 | chr16:g.2086861G>A | c.4247G>A | p.G1416D | RefSeq | GRCh38/hg38 |
NM_001114382.2 | chr16:g.2084538G>A | c.4247G>A | p.G1416D | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2084538G>A | c.4247G>A | p.G1416D | RefSeq | GRCh38/hg38 |
NM_001370404.1 | chr16:g.2084601G>A | c.4247G>A | p.G1416D | RefSeq | GRCh38/hg38 |
NM_001318832.2 | chr16:g.2084637G>A | c.4247G>A | p.G1416D | RefSeq | GRCh38/hg38 |
XM_011522637.3 | chr16:g.2084418_2084419delGGinsAC | c.4247_4248delGGinsAC | p.G1416D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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