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Gene | TSC2 |
Variant | V225M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC2 V225M lies within the TSC1-interacting region of the Tsc2 protein (UniProt.org). V225M has not been characterized in the scientific literature and therefore, its effect on Tsc2 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 V225M |
Transcript | NM_000548.5 |
gDNA | chr16:g.2056668G>A |
cDNA | c.673G>A |
Protein | p.V225M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001363528.2 | chr16:g.2056668G>A | c.673G>A | p.V225M | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.2056668G>A | c.673G>A | p.V225M | RefSeq | GRCh38/hg38 |
NM_001406665.1 | chr16:g.2056668G>A | c.673G>A | p.V225M | RefSeq | GRCh38/hg38 |
XM_011522639.3 | chr16:g.2056668G>A | c.673G>A | p.V225M | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2056668G>A | c.673G>A | p.V225M | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2056668G>A | c.673G>A | p.V225M | RefSeq | GRCh38/hg38 |
NM_001370405.1 | chr16:g.2056668G>A | c.673G>A | p.V225M | RefSeq | GRCh38/hg38 |
NM_001406664.1 | chr16:g.2056668G>A | c.673G>A | p.V225M | RefSeq | GRCh38/hg38 |
NM_001077183.3 | chr16:g.2056668G>A | c.673G>A | p.V225M | RefSeq | GRCh38/hg38 |
XM_011522637.3 | chr16:g.2056668G>A | c.673G>A | p.V225M | RefSeq | GRCh38/hg38 |
NM_001406663.1 | chr16:g.2056668G>A | c.673G>A | p.V225M | RefSeq | GRCh38/hg38 |
NM_021055.3 | chr16:g.2056668G>A | c.673G>A | p.V225M | RefSeq | GRCh38/hg38 |
NM_001370404.1 | chr16:g.2056668G>A | c.673G>A | p.V225M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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