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Gene | TSC2 |
Variant | G305* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TSC2 G305* results in a premature truncation of the Tsc2 protein at amino acid 305 of 1807 (UniProt.org). G305* has not been characterized however, due to the effects of other truncation mutations downstream of G305 (PMID: 22903760, PMID: 31454656), is predicted to lead to a loss of Tsc2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 inact mut TSC2 G305* |
Transcript | NM_000548.5 |
gDNA | chr16:g.2058811G>T |
cDNA | c.913G>T |
Protein | p.G305* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_021055.3 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001318832.2 | chr16:g.2058778G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001406665.1 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_005255529.4 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001370405.1 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001077183 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_011522636.2 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_017023616 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_024450413.1 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_011522636.3 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_017023615 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001318832 | chr16:g.2058778G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_011522640.2 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_011522637 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_005255531.4 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001114382 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_011522640 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_011522637.2 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_011522639.2 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001370404.1 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_011522639.3 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001077183.2 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001318832.1 | chr16:g.2058778G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001114382.2 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_000548 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_005255529 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_017023616.1 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_011522639 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001114382.3 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001406664.1 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_017023615.1 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_011522636 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001406663.1 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_005255531 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001363528.2 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
XM_011522637.3 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
NM_001406681.1 | chr16:g.2062985_2062987delGGCinsTGA | c.913_915delGGCinsTGA | p.G305* | RefSeq | GRCh38/hg38 |
NM_001077183.3 | chr16:g.2058811G>T | c.913G>T | p.G305* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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