Gene Variant Detail

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Gene TSC1
Variant V128del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions TSC1 V128del results in the deletion of an amino acid of the Tsc1 protein at aa 128 (UniProt.org). V128del confers a loss of function on the Tsc1 protein as indicated by decreased Tsc1 protein expression and loss of mTOR pathway inhibition in cell culture (PMID: 18830229).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 inact mut TSC1 V128del

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Transcript NM_000368.5
gDNA chr9:g.132923472_132923474delGAC
cDNA c.382_384delGTC
Protein p.V128delV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406630.1 chr9:g.132906737_132906739delCTT c.383_385delAAG p.E128delE RefSeq GRCh38/hg38
NM_001406610.1 chr9:g.132921945_132921947delATG c.383_385delATC p.H128delH RefSeq GRCh38/hg38
XM_017015099.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001162427.1 chr9:g.132921945_132921947delATG c.383_385delATC p.H128delH RefSeq GRCh38/hg38
NM_001406623.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
XM_017015100.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_001406611.1 chr9:g.132921945_132921947delATG c.383_385delATC p.H128delH RefSeq GRCh38/hg38
XM_017015099 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406628.1 chr9:g.132906831_132906833delCTC c.382_384delGAG p.E128delE RefSeq GRCh38/hg38
NM_001406613.1 chr9:g.132921945_132921947delATG c.383_385delATC p.H128delH RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
XM_006717271 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
XM_017015101 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_001406629.1 chr9:g.132906737_132906739delCTT c.383_385delAAG p.E128delE RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
XM_017015097 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406626.1 chr9:g.132906835_132907302del468 c.382+1_385del468 p.E129delE RefSeq GRCh38/hg38
NM_001162427.2 chr9:g.132921945_132921947delATG c.383_385delATC p.H128delH RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406620.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
XM_017015100 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406621.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
XM_005272211 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
XM_017015101.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406618.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406627.1 chr9:g.132906831_132906833delCTC c.382_384delGAG p.E128delE RefSeq GRCh38/hg38
NM_001406625.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_001406612.1 chr9:g.132921945_132921947delATG c.383_385delATC p.H128delH RefSeq GRCh38/hg38
NM_000368 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
XM_017015096 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406622.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406614.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_001406615.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_001162427 chr9:g.132921945_132921947delATG c.383_385delATC p.H128delH RefSeq GRCh38/hg38
NM_001406624.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
XM_011518979 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
XM_017015098 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406617.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001362177.2 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_001162426 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132923472_132923474delGAC c.382_384delGTC p.V128delV RefSeq GRCh38/hg38
NM_001406616.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR RefSeq GRCh38/hg38
NM_001406619.1 chr9:g.132912448_132912450delTCT c.382_384delAGA p.R128delR 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 )
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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