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Gene TSC2
Variant L1198M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 L1198M does not lie within any known functional domains of the Tsc2 protein (UniProt.org). L1198M has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 L1198M

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Transcript NM_000548.5
gDNA chr16:g.2080359C>A
cDNA c.3592C>A
Protein p.L1198M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382.3 chr16:g.2080359C>A c.3592C>A p.L1198M RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2080359C>A c.3592C>A p.L1198M RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2080359C>A c.3592C>A p.L1198M RefSeq GRCh38/hg38
NM_001406668.1 chr16:g.2081618C>A c.3592C>A p.L1198M RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2080359C>A c.3592C>A p.L1198M RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2080359C>A c.3592C>A p.L1198M RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2080359C>A c.3592C>A p.L1198M RefSeq GRCh38/hg38
NM_001406670.1 chr16:g.2081687_2081689delCTCinsATG c.3592_3594delCTCinsATG p.L1198M RefSeq GRCh38/hg38
XM_011522638.3 chr16:g.2081687_2081689delCTCinsATG c.3592_3594delCTCinsATG p.L1198M RefSeq GRCh38/hg38
NM_001406680.1 chr16:g.2084414_2084416delCTCinsATG c.3592_3594delCTCinsATG p.L1198M RefSeq GRCh38/hg38
NM_001318832.2 chr16:g.2081675C>A c.3592C>A p.L1198M RefSeq GRCh38/hg38

Filtering

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries