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Gene TSC2
Variant R1268G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 R1268G does not lie within any known functional domains of the Tsc2 protein (UniProt.org). R1268G 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, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 R1268G

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Transcript NM_000548.5
gDNA chr16:g.2081786C>G
cDNA c.3802C>G
Protein p.R1268G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522636 chr16:g.2081786C>G c.3802C>G p.R1268G RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2083814A>G c.3802A>G p.R1268G RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2083814A>G c.3802A>G p.R1268G RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2081786C>G c.3802C>G p.R1268G RefSeq GRCh38/hg38
NM_001406670.1 chr16:g.2083793A>G c.3802A>G p.R1268G RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2083814A>G c.3802A>G p.R1268G RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2081786C>G c.3802C>G p.R1268G RefSeq GRCh38/hg38
NM_001077183 chr16:g.2083814A>G c.3802A>G p.R1268G RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2081786C>G c.3802C>G p.R1268G RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2081786C>G c.3802C>G p.R1268G RefSeq GRCh38/hg38
NM_000548 chr16:g.2081786C>G c.3802C>G p.R1268G RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2081786C>G c.3802C>G p.R1268G RefSeq GRCh38/hg38
NM_001114382 chr16:g.2081786C>G c.3802C>G p.R1268G RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2081786C>G c.3802C>G p.R1268G RefSeq GRCh38/hg38

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  • 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