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Gene | TSC2 |
Variant | A1294V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC2 A1294V does not lie within any known functional domains of the Tsc2 protein (UniProt.org). A1294V has been identified in sequencing studies (Journal of Thoracic Oncology, Vol 13, Issue 10, S512-513), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 A1294V |
Transcript | NM_000548.5 |
gDNA | chr16:g.2082502C>T |
cDNA | c.3881C>T |
Protein | p.A1294V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000548.4 | chr16:g.2082502C>T | c.3881C>T | p.A1294V | RefSeq | GRCh38/hg38 |
NM_001406686.1 | chr16:g.2086209C>T | c.3881C>T | p.A1294V | RefSeq | GRCh38/hg38 |
XM_011522636.2 | chr16:g.2082502C>T | c.3881C>T | p.A1294V | RefSeq | GRCh38/hg38 |
NM_001406685.1 | chr16:g.2086209C>T | c.3881C>T | p.A1294V | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2082502C>T | c.3881C>T | p.A1294V | RefSeq | GRCh38/hg38 |
NM_000548 | chr16:g.2082502C>T | c.3881C>T | p.A1294V | RefSeq | GRCh38/hg38 |
XM_011522636 | chr16:g.2082502C>T | c.3881C>T | p.A1294V | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.2082502C>T | c.3881C>T | p.A1294V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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