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Gene | TSC2 |
Variant | A1003fs |
Impact List | frameshift |
Protein Effect | loss of function |
Gene Variant Descriptions | TSC2 A1003fs results in a change in the amino acid sequence of the Tsc2 protein beginning at aa 1003 of 1807, likely resulting in premature truncation of the functional protein (UniProt.org). A1003fs confers a loss of function to the Tsc2 protein as indicated by increased Ofd1 and p62 expression associated with decreased autophagy, and reduced ciliogenesis in patient samples (PMID: 29937275). |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 inact mut TSC2 A1003fs |
Transcript | NM_000548.5 |
gDNA | chr16:g.(2079071_2079072) |
cDNA | c.(3007_3006) |
Protein | p.A1003fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001114382.2 | chr16:g.(2079071_2079072) | c.(3007_3006) | p.A1003fs | RefSeq | GRCh38/hg38 |
NM_001406676.1 | chr16:g.(2079300_2079301) | c.(3007_3006) | p.A1003fs | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.(2079071_2079072) | c.(3007_3006) | p.A1003fs | RefSeq | GRCh38/hg38 |
NM_001406670.1 | chr16:g.(2079182_2079183) | c.(3007_3006) | p.A1003fs | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.(2079071_2079072) | c.(3007_3006) | p.A1003fs | RefSeq | GRCh38/hg38 |
XM_011522638.3 | chr16:g.(2079182_2079183) | c.(3007_3006) | p.A1003fs | RefSeq | GRCh38/hg38 |
NM_000548 | chr16:g.(2079071_2079072) | c.(3007_3006) | p.A1003fs | RefSeq | GRCh38/hg38 |
XM_011522636.2 | chr16:g.(2079071_2079072) | c.(3007_3006) | p.A1003fs | RefSeq | GRCh38/hg38 |
XM_011522636 | chr16:g.(2079071_2079072) | c.(3007_3006) | p.A1003fs | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.(2079071_2079072) | c.(3007_3006) | p.A1003fs | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.(2079071_2079072) | c.(3007_3006) | p.A1003fs | RefSeq | GRCh38/hg38 |
NM_001114382 | chr16:g.(2079071_2079072) | c.(3007_3006) | p.A1003fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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