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Gene TSC2
Variant R978H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 R978H does not lie within any known functional domains of the Tsc2 protein (UniProt.org). R978H has been identified in sequencing studies (PMID: 25822088, PMID: 22343534), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 R978H

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Transcript NM_000548.5
gDNA chr16:g.2077693G>A
cDNA c.2933G>A
Protein p.R978H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406691.1 chr16:g.2084631G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
NM_001114382 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
XM_017023615 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
NM_000548 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
XM_011522636 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
XM_011522637 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2077693G>A c.2933G>A p.R978H RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2077693G>A c.2933G>A p.R978H 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