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Gene TSC2
Variant I427_S428del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions TSC2 I427_S428del results in the deletion of two amino acids of the Tsc2 protein from amino acid 427 to 428 (UniProt.org). I427_S428del has not been characterized in the scientific literature and therefore, its effect on Tsc2 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 I427_S428del

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Transcript NM_000548.5
gDNA chr16:g.2062518_2062523delATCTCC
cDNA c.1279_1284delATCTCC
Protein p.I427_S428del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522640.2 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_001077183 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_005255529 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_011522639 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_000548 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_011522637 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_011522640 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_017023616 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_017023615 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_005255531 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
XM_011522636 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del RefSeq GRCh38/hg38
NM_001114382 chr16:g.2062518_2062523delATCTCC c.1279_1284delATCTCC p.I427_S428del 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