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Gene TSC2
Variant S1221L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 S1221L does not lie within any known functional domains of the Tsc2 protein (UniProt.org). S1221L has been identified in sequencing studies (PMID: 29316426), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 S1221L

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Transcript NM_000548.5
gDNA chr16:g.2081646C>T
cDNA c.3662C>T
Protein p.S1221L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001318832 chr16:g.2081745C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
NM_001318829.1 chr16:g.2084229C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.2081789_2081790delTCinsCT c.3661_3662delTCinsCT p.S1221L RefSeq GRCh38/hg38
NM_001406685.1 chr16:g.2084681_2084682delTCinsCT c.3661_3662delTCinsCT p.S1221L RefSeq GRCh38/hg38
XM_011522636 chr16:g.2081646C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
NM_000548 chr16:g.2081646C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
NM_001114382 chr16:g.2081646C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
NM_001318829.2 chr16:g.2084229C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
NM_001318829 chr16:g.2084229C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2081646C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2081646C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
NM_001406679.1 chr16:g.2084231_2084232delTCinsCT c.3661_3662delTCinsCT p.S1221L RefSeq GRCh38/hg38
NM_001318832.2 chr16:g.2081745C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2081646C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2081646C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2081646C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
NM_001318832.1 chr16:g.2081745C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38
NM_001406686.1 chr16:g.2084681_2084682delTCinsCT c.3661_3662delTCinsCT p.S1221L RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2081646C>T c.3662C>T p.S1221L RefSeq GRCh38/hg38

Filtering

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  • 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")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries