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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

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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
XM_005255529 chr16:g.2086765A>G c.4754A>G p.K1585R RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2086765A>G c.4754A>G p.K1585R RefSeq GRCh38/hg38
NM_000548 chr16:g.2086284A>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_001406678.1 chr16:g.2087939A>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_000548.4 chr16:g.2086284A>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

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References