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Gene TSC2
Variant S1085fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 S1085fs results in a change in the amino acid sequence of the Tsc2 protein beginning at aa 1085 of 1807, likely resulting in premature truncation of the functional protein (UniProt.org). S1085fs has not been characterized however, due to the effects of other truncation mutations downstream of S1085 (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 S1085fs

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Transcript NM_000548.5
gDNA chr16:g.(2079396_2079397)
cDNA c.(3253_3252)
Protein p.S1085fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522636.2 chr16:g.(2079396_2079397) c.(3253_3252) p.S1085fs RefSeq GRCh38/hg38
NM_001114382 chr16:g.(2079396_2079397) c.(3253_3252) p.S1085fs RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.(2079396_2079397) c.(3253_3252) p.S1085fs RefSeq GRCh38/hg38
NM_001406671.1 chr16:g.(2079665_2079666) c.(3253_3252) p.S1085fs RefSeq GRCh38/hg38
XM_011522636 chr16:g.(2079396_2079397) c.(3253_3252) p.S1085fs RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.(2079396_2079397) c.(3253_3252) p.S1085fs RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.(2079396_2079397) c.(3253_3252) p.S1085fs RefSeq GRCh38/hg38
NM_000548 chr16:g.(2079396_2079397) c.(3253_3252) p.S1085fs RefSeq GRCh38/hg38
NM_000548.4 chr16:g.(2079396_2079397) c.(3253_3252) p.S1085fs RefSeq GRCh38/hg38
NM_000548.5 chr16:g.(2079396_2079397) c.(3253_3252) p.S1085fs RefSeq GRCh38/hg38

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