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Gene TSC1
Variant M322V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 M322V does not lie within any known functional domains of the Tsc1 protein (UniProt.org). M322V has not been characterized in the scientific literature and therefore, its effect on Tsc1 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 M322V

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Transcript NM_000368.5
gDNA chr9:g.132911518T>C
cDNA c.964A>G
Protein p.M322V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017015096.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_000368 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
XM_017015096 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
XM_017015097 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
XM_006717271 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
XM_005272211 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
XM_011518979 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
XM_017015098 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001162426 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132911518T>C c.964A>G p.M322V RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132911518T>C c.964A>G p.M322V 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.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References