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Gene TSC1
Variant H68R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 H68R does not lie within any known functional domains of the Tsc1 protein (UniProt.org). H68R results in reduced protein stability in culture (PMID: 18397877), but has not been fully biochemically characterized and therefore, its effect on Tsc1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 H68R

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Transcript NM_000368.5
gDNA chr9:g.132927208T>C
cDNA c.203A>G
Protein p.H68R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406617.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406620.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406623.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406615.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406619.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015100 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015098 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001162427.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015097 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015101.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406613.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406611.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406618.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406622.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406614.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015099 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_011518979 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001362177.2 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001162426 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406621.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015101 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_005272211 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_006717271 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406610.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406616.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406612.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406625.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406624.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015096 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001162427 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015099.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001162427.2 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
XM_017015100.1 chr9:g.132921916T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132927208T>C c.203A>G p.H68R RefSeq GRCh38/hg38
NM_000368 chr9:g.132927208T>C c.203A>G p.H68R 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 Protein Effect Treatment Approaches
TSC1 H68R unknown