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