TSC1 L191H
Gene Variant Detail

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Gene TSC1
Variant L191H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC1 L191H does not lie within any known functional domains of the Tsc1 protein (UniProt.org). L191H results in decreased Tsc1 protein expression and loss of mTOR pathway inhibition in cell culture (PMID: 18830229, PMID: 21309039), and therefore, is predicted to lead to a loss of Tsc1 protein function.
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 inact mut TSC1 L191H

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Transcript NM_000368.5
gDNA chr9:g.132921910A>T
cDNA c.572T>A
Protein p.L191H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005272211.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001162427 chr9:g.132921374_132921375delCAinsAT c.572_573delTGinsAT p.L191H RefSeq GRCh38/hg38
NM_001406612.1 chr9:g.132921374_132921375delTGinsAT c.572_573delTGinsAT p.L191H RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406610.1 chr9:g.132921374_132921375delTGinsAT c.572_573delTGinsAT p.L191H RefSeq GRCh38/hg38
XM_006717271 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
XM_017015096 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001162427.1 chr9:g.132921374_132921375delTGinsAT c.572_573delTGinsAT p.L191H RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001162426 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406611.1 chr9:g.132921374_132921375delTGinsAT c.572_573delTGinsAT p.L191H RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406613.1 chr9:g.132921374_132921375delTGinsAT c.572_573delTGinsAT p.L191H RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
XM_017015097 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_000368 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001162427.2 chr9:g.132921374_132921375delTGinsAT c.572_573delTGinsAT p.L191H RefSeq GRCh38/hg38
XM_017015098 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
XM_005272211 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38
XM_011518979 chr9:g.132921910A>T c.572T>A p.L191H RefSeq GRCh38/hg38

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