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Gene | TSC2 |
Variant | S981A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC2 S981A does not lie within any known functional domains of the Tsc2 protein (UniProt.org). The functional effect of S981A is conflicting, as it results in Tsc2 phosphorylation levels and GAP activity towards Rheb similar to wild-type, however, also demonstrates altered cellular localization and reduced S6k phosphorylation in culture cells (PMID: 23818547, PMID: 16636147), and therefore, its effect on Tsc2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 S981A |
Transcript | NM_000548.5 |
gDNA | chr16:g.2077701_2077702delAGinsGC |
cDNA | c.2941_2942delAGinsGC |
Protein | p.S981A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000548 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
XM_011522636 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
XM_011522637 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
NM_001318832 | chr16:g.2079105_2079106delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
NM_001318832.1 | chr16:g.2079105_2079106delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
NM_001406689.1 | chr16:g.2084576T>G | c.2941T>G | p.S981A | RefSeq | GRCh38/hg38 |
NM_001318832.2 | chr16:g.2079105_2079106delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
NM_001406663.1 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
XM_017023618.1 | chr16:g.2084453_2084454delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
XM_011522636.2 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
XM_011522637.3 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
XM_017023615 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
NM_001406664.1 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
NM_001114382.2 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
NM_001406667.1 | chr16:g.2079045T>G | c.2941T>G | p.S981A | RefSeq | GRCh38/hg38 |
XM_017023618 | chr16:g.2084453_2084454delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
NM_001114382 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
XM_011522637.2 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
XM_017023615.1 | chr16:g.2077701_2077702delAGinsGC | c.2941_2942delAGinsGC | p.S981A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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