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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 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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