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Gene TSC2
Variant N1224I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 N1224I does not lie within any known functional domains of the Tsc2 protein (UniProt.org). N1224I has been identified in sequencing studies (J Thorac Oncol. Vol 13, Issue 10, S512-S513), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 N1224I

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Transcript NM_000548.5
gDNA chr16:g.2081655A>T
cDNA c.3671A>T
Protein p.N1224I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522636 chr16:g.2081655A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2081658A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2081655A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
NM_000548 chr16:g.2081655A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2081655A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2081658A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
XM_011522637 chr16:g.2081658A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2081658A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2081655A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2081655A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
XM_017023615 chr16:g.2081658A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2081655A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2081655A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
NM_001114382 chr16:g.2081655A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2081658A>T c.3671A>T p.N1224I RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2081658A>T c.3671A>T p.N1224I 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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  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries