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Gene TSC2
Variant R1720Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 R1720Q (corresponding to R1743Q in the canonical isoform) lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). R1720Q results in the loss of repression of Mtorc1 as indicated by assays demonstrating increased phosphorylation of S6k in cultured cells (PMID: 18854862).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 R1720Q

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Transcript NM_001114382.3
gDNA chr16:g.2088294G>A
cDNA c.5159G>A
Protein p.R1720Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382.3 chr16:g.2088294G>A c.5159G>A p.R1720Q RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2088294G>A c.5159G>A p.R1720Q RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2088300_2088301delGCinsAA c.5159_5160delGCinsAA p.R1720Q RefSeq GRCh38/hg38
NM_001406676.1 chr16:g.2088564G>A c.5159G>A p.R1720Q RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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