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Gene | TSC2 |
Variant | P1092L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC2 P1092L does not lie within any known functional domains of the Tsc2 protein (UniProt.org). P1092L has not been characterized in the scientific literature and therefore, its effect on Tsc2 protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 P1092L |
Transcript | NM_000548.5 |
gDNA | chr16:g.2079419C>T |
cDNA | c.3275C>T |
Protein | p.P1092L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000548.5 | chr16:g.2079419C>T | c.3275C>T | p.P1092L | RefSeq | GRCh38/hg38 |
NM_001406683.1 | chr16:g.2083755C>T | c.3275C>T | p.P1092L | RefSeq | GRCh38/hg38 |
NM_001406685.1 | chr16:g.2084295C>T | c.3275C>T | p.P1092L | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2079419C>T | c.3275C>T | p.P1092L | RefSeq | GRCh38/hg38 |
XM_011522636.2 | chr16:g.2079419C>T | c.3275C>T | p.P1092L | RefSeq | GRCh38/hg38 |
NM_000548 | chr16:g.2079419C>T | c.3275C>T | p.P1092L | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.2079419C>T | c.3275C>T | p.P1092L | RefSeq | GRCh38/hg38 |
NM_001406686.1 | chr16:g.2084295C>T | c.3275C>T | p.P1092L | RefSeq | GRCh38/hg38 |
NM_001114382 | chr16:g.2079419C>T | c.3275C>T | p.P1092L | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2079419C>T | c.3275C>T | p.P1092L | RefSeq | GRCh38/hg38 |
XM_011522636 | chr16:g.2079419C>T | c.3275C>T | p.P1092L | RefSeq | GRCh38/hg38 |
NM_001406682.1 | chr16:g.2083755C>T | c.3275C>T | p.P1092L | RefSeq | GRCh38/hg38 |
NM_001114382.2 | chr16:g.2079419C>T | c.3275C>T | p.P1092L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TSC2 P1092L | unknown |