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Gene TSC1
Variant M271T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 M271T (corresponds to M318T in the canonical isoform) does not lie within any known functional domains of the Tsc1 protein (UniProt.org). M271T has been identified in sequencing studies (PMID: 25528188, PMID: 30719144, PMID: 28839440), but has not been biochemically characterized and therefore, its effect on Tsc1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 M271T

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Transcript NM_001162427.2
gDNA chr9:g.132911517A>G
cDNA c.812T>C
Protein p.M271T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406613.1 chr9:g.132911517A>G c.812T>C p.M271T RefSeq GRCh38/hg38
NM_001162427 chr9:g.132911517A>G c.812T>C p.M271T RefSeq GRCh38/hg38
NM_001406611.1 chr9:g.132911517A>G c.812T>C p.M271T RefSeq GRCh38/hg38
NM_001406612.1 chr9:g.132911517A>G c.812T>C p.M271T RefSeq GRCh38/hg38
NM_001406610.1 chr9:g.132911517A>G c.812T>C p.M271T RefSeq GRCh38/hg38
NM_001162427.1 chr9:g.132911517A>G c.812T>C p.M271T RefSeq GRCh38/hg38
NM_001162427.2 chr9:g.132911517A>G c.812T>C p.M271T 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
  • 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