Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
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 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|