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Gene | TSC2 |
Variant | K1585R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC2 K1585R lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). K1585R has been identified in sequencing studies (J Thorac Oncol. Vol 13, Issue 10, S512-S513), 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 K1585R |
Transcript | NM_000548.5 |
gDNA | chr16:g.2086284A>G |
cDNA | c.4754A>G |
Protein | p.K1585R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_021055.3 | chr16:g.2086765A>G | c.4754A>G | p.K1585R | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2086284A>G | c.4754A>G | p.K1585R | RefSeq | GRCh38/hg38 |
NM_001406678.1 | chr16:g.2087939A>G | c.4754A>G | p.K1585R | RefSeq | GRCh38/hg38 |
XM_005255529.4 | chr16:g.2086765A>G | c.4754A>G | p.K1585R | RefSeq | GRCh38/hg38 |
NM_001406676.1 | chr16:g.2086855A>G | c.4754A>G | p.K1585R | RefSeq | GRCh38/hg38 |
NM_000548 | chr16:g.2086284A>G | c.4754A>G | p.K1585R | RefSeq | GRCh38/hg38 |
NM_001406679.1 | chr16:g.2088081A>G | c.4754A>G | p.K1585R | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2086284A>G | c.4754A>G | p.K1585R | RefSeq | GRCh38/hg38 |
NM_001370405.1 | chr16:g.2086765A>G | c.4754A>G | p.K1585R | RefSeq | GRCh38/hg38 |
XM_005255529 | chr16:g.2086765A>G | c.4754A>G | p.K1585R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TSC2 K1585R | unknown |