TSC2 A1003fs
Gene Variant Detail

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Gene TSC2
Variant A1003fs
Impact List frameshift
Protein Effect loss of function - predicted
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 results in increased Ofd1 and p62 expression associated with decreased autophagy and reduced ciliogenesis in patient samples (PMID: 29937275), and due to the effects of other truncation mutations downstream of A1003 (PMID: 22903760), is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 A1003fs

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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_001406670.1 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
NM_001114382.3 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_000548.4 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 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_011522638.3 chr16:g.(2079182_2079183) c.(3007_3006) p.A1003fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References