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Gene | TSC2 |
Variant | D1004Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC2 D1004Y does not lie within any known functional domains of the Tsc2 protein (UniProt.org). D1004Y has been identified in sequencing studies (PMID: 30556601), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 D1004Y |
Transcript | NM_000548.5 |
gDNA | chr16:g.2079075G>T |
cDNA | c.3010G>T |
Protein | p.D1004Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011522636.2 | chr16:g.2079075G>T | c.3010G>T | p.D1004Y | RefSeq | GRCh38/hg38 |
NM_001318827.1 | chr16:g.2079394G>T | c.3010G>T | p.D1004Y | RefSeq | GRCh38/hg38 |
XM_011522636 | chr16:g.2079075G>T | c.3010G>T | p.D1004Y | RefSeq | GRCh38/hg38 |
NM_001318827.2 | chr16:g.2079394G>T | c.3010G>T | p.D1004Y | RefSeq | GRCh38/hg38 |
NM_000548 | chr16:g.2079075G>T | c.3010G>T | p.D1004Y | RefSeq | GRCh38/hg38 |
NM_001114382 | chr16:g.2079075G>T | c.3010G>T | p.D1004Y | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2079075G>T | c.3010G>T | p.D1004Y | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2079075G>T | c.3010G>T | p.D1004Y | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2079075G>T | c.3010G>T | p.D1004Y | RefSeq | GRCh38/hg38 |
NM_001114382.2 | chr16:g.2079075G>T | c.3010G>T | p.D1004Y | RefSeq | GRCh38/hg38 |
NM_001318827 | chr16:g.2079394G>T | c.3010G>T | p.D1004Y | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.2079075G>T | c.3010G>T | p.D1004Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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