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Gene TSC2
Variant L1216I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 L1216I does not lie within any known functional domains of the Tsc2 protein (UniProt.org). L1216I has not been characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 L1216I

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Transcript NM_000548.5
gDNA chr16:g.2081630C>A
cDNA c.3646C>A
Protein p.L1216I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382 chr16:g.2081630C>A c.3646C>A p.L1216I RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2081630C>A c.3646C>A p.L1216I RefSeq GRCh38/hg38
NM_001318832 chr16:g.2081729_2081731delCTGinsATC c.3646_3648delCTGinsATC p.L1216I RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2081630C>A c.3646C>A p.L1216I RefSeq GRCh38/hg38
XM_011522636 chr16:g.2081630C>A c.3646C>A p.L1216I RefSeq GRCh38/hg38
XM_011522638.3 chr16:g.2081741_2081743delCTGinsATC c.3646_3648delCTGinsATC p.L1216I RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2081630C>A c.3646C>A p.L1216I RefSeq GRCh38/hg38
NM_001406691.1 chr16:g.2088101_2088103delCTGinsATC c.3646_3648delCTGinsATC p.L1216I RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2081630C>A c.3646C>A p.L1216I RefSeq GRCh38/hg38
NM_001406670.1 chr16:g.2081741_2081743delCTGinsATC c.3646_3648delCTGinsATC p.L1216I RefSeq GRCh38/hg38
NM_000548 chr16:g.2081630C>A c.3646C>A p.L1216I RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2081630C>A c.3646C>A p.L1216I RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2081630C>A c.3646C>A p.L1216I RefSeq GRCh38/hg38
NM_001406676.1 chr16:g.2081780_2081782delCTGinsATC c.3646_3648delCTGinsATC p.L1216I RefSeq GRCh38/hg38
NM_001318832.2 chr16:g.2081729_2081731delCTGinsATC c.3646_3648delCTGinsATC p.L1216I RefSeq GRCh38/hg38
NM_001318832.1 chr16:g.2081729_2081731delCTGinsATC c.3646_3648delCTGinsATC p.L1216I RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
TSC2 L1216I unknown