TSC2 N1643H
Gene Variant Detail

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Gene TSC2
Variant N1643H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 N1643H lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). N1643H demonstrates protein stability similar to wild-type Tsc2 in an in vitro assay, but fails to inhibit Mtorc1 signaling and results in a loss of catalytic activity in an in vitro assay (PMID: 32502382), and therefore, results in a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 N1643H

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Transcript NM_000548.5
gDNA chr16:g.2086809A>C
cDNA c.4927A>C
Protein p.N1643H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.5 chr16:g.2086809A>C c.4927A>C p.N1643H RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2086809A>C c.4927A>C p.N1643H RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2087872A>C c.4927A>C p.N1643H RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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