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Gene TSC2
Variant V1034I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 V1034I does not lie within any known functional domains of the Tsc2 protein (UniProt.org). V1034I has been identified in sequencing studies (PMID: 27930734), 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 V1034I

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Transcript NM_000548.5
gDNA chr16:g.2079165G>A
cDNA c.3100G>A
Protein p.V1034I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.4 chr16:g.2079165G>A c.3100G>A p.V1034I RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2079165G>A c.3100G>A p.V1034I RefSeq GRCh38/hg38
NM_001114382 chr16:g.2079165G>A c.3100G>A p.V1034I RefSeq GRCh38/hg38
NM_001318832 chr16:g.2079343G>A c.3100G>A p.V1034I RefSeq GRCh38/hg38
XM_011522636 chr16:g.2079165G>A c.3100G>A p.V1034I RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2079165G>A c.3100G>A p.V1034I RefSeq GRCh38/hg38
NM_001318832.2 chr16:g.2079343G>A c.3100G>A p.V1034I RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2079165G>A c.3100G>A p.V1034I RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2079165G>A c.3100G>A p.V1034I RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2079165G>A c.3100G>A p.V1034I RefSeq GRCh38/hg38
NM_001318832.1 chr16:g.2079343G>A c.3100G>A p.V1034I RefSeq GRCh38/hg38
NM_000548 chr16:g.2079165G>A c.3100G>A p.V1034I RefSeq GRCh38/hg38
NM_001406667.1 chr16:g.2079283_2079285delGTGinsATC c.3100_3102delGTGinsATC p.V1034I RefSeq GRCh38/hg38

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Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries