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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

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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_000548.4 chr16:g.2079419C>T c.3275C>T p.P1092L RefSeq GRCh38/hg38
NM_001114382.3 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
XM_011522636.2 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_001406685.1 chr16:g.2084295C>T c.3275C>T p.P1092L RefSeq GRCh38/hg38
NM_000548.5 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 chr16:g.2079419C>T c.3275C>T p.P1092L RefSeq GRCh38/hg38
NM_001114382.2 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
NM_001406683.1 chr16:g.2083755C>T c.3275C>T p.P1092L RefSeq GRCh38/hg38
XM_011522636 chr16:g.2079419C>T c.3275C>T p.P1092L RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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