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Gene TSC2
Variant L1137F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 L1137F does not lie within any known functional domains of the Tsc2 protein (UniProt.org). L1137F has not been characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 L1137F

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Transcript NM_000548.5
gDNA chr16:g.2080176C>T
cDNA c.3409C>T
Protein p.L1137F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382 chr16:g.2080176C>T c.3409C>T p.L1137F RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2080176C>T c.3409C>T p.L1137F RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2080176C>T c.3409C>T p.L1137F RefSeq GRCh38/hg38
XM_011522638 chr16:g.2079391_2079393delCTGinsTTT c.3409_3411delCTGinsTTT p.L1137F RefSeq GRCh38/hg38
NM_001406667.1 chr16:g.2080215_2080217delCTGinsTTT c.3409_3411delCTGinsTTT p.L1137F RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2080176C>T c.3409C>T p.L1137F RefSeq GRCh38/hg38
XM_011522636 chr16:g.2080176C>T c.3409C>T p.L1137F RefSeq GRCh38/hg38
XM_011522638.2 chr16:g.2079391_2079393delCTGinsTTT c.3409_3411delCTGinsTTT p.L1137F RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2080176C>T c.3409C>T p.L1137F RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2080176C>T c.3409C>T p.L1137F RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2080176C>T c.3409C>T p.L1137F RefSeq GRCh38/hg38
NM_000548 chr16:g.2080176C>T c.3409C>T p.L1137F RefSeq GRCh38/hg38

Filtering

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Sorting

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