TSC2 A1003fs
Gene Variant Detail

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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

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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_000548.4 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_000548 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_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
NM_000548.5 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_001114382.3 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_001114382.2 chr16:g.(2079071_2079072) 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