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Gene TSC2
Variant A1297T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 A1297T does not lie within any known functional domains of the Tsc2 protein (UniProt.org). A1297T has been identified in sequencing studies (PMID: 27930734, PMID: 36788092, PMID: 38791144), 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 A1297T

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Transcript NM_000548.5
gDNA chr16:g.2083700G>A
cDNA c.3889G>A
Protein p.A1297T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522639 chr16:g.2083775G>A c.3889G>A p.A1297T RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2083778G>A c.3889G>A p.A1297T RefSeq GRCh38/hg38
XM_011522640 chr16:g.2083778G>A c.3889G>A p.A1297T RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2083775G>A c.3889G>A p.A1297T RefSeq GRCh38/hg38
NM_000548 chr16:g.2083700G>A c.3889G>A p.A1297T RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2082510G>A c.3889G>A p.A1297T RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2083778G>A c.3889G>A p.A1297T RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2083775G>A c.3889G>A p.A1297T RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2083700G>A c.3889G>A p.A1297T RefSeq GRCh38/hg38
XM_011522636 chr16:g.2082510G>A c.3889G>A p.A1297T RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2083700G>A c.3889G>A p.A1297T RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2082510G>A c.3889G>A p.A1297T RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
TSC2 A1297T unknown