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