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Gene TSC2
Variant P1176fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 P1176fs results in a change in the amino acid sequence of the Tsc2 protein beginning at aa 1176 of 1807, likely resulting in premature truncation of the functional protein (UniProt.org). P1176fs has not been characterized however, due to the effects of other truncation mutations downstream of P1176 (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 P1176fs

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Transcript NM_000548.5
gDNA chr16:g.(2080292_2080293)
cDNA c.(3526_3525)
Protein p.P1176fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.4 chr16:g.(2080292_2080293) c.(3526_3525) p.P1176fs RefSeq GRCh38/hg38
NM_000548.5 chr16:g.(2080292_2080293) c.(3526_3525) p.P1176fs RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.(2080292_2080293) c.(3526_3525) p.P1176fs RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.(2080292_2080293) c.(3526_3525) p.P1176fs RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.(2080292_2080293) c.(3526_3525) p.P1176fs RefSeq GRCh38/hg38
NM_001406698.1 chr16:g.(2088514_2088515) c.(3526_3525) p.P1176fs RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.(2080292_2080293) c.(3526_3525) p.P1176fs RefSeq GRCh38/hg38
NM_001318827.2 chr16:g.(2081749_2081750) c.(3526_3525) p.P1176fs RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
TSC2 P1176fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor