TSC2 I365del
Gene Variant Detail

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Gene TSC2
Variant I365del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions TSC2 I365del results in the deletion of an amino acid in the Tsc2 protein at amino acid 365 (UniProt.org). I365del confers a loss of function on Tsc2, as demonstrated by abolished tuberin-hamartin binding in a yeast assay (PMID: 11741833), and failure to inhibit Mcp-1 production in cell culture (PMID: 16129702).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 I365del

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Transcript NM_000548.5
gDNA chr16:g.2060787_2060789delATC
cDNA c.1093_1095delATC
Protein p.I365delI
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406677.1 chr16:g.2061901_2061903delGTC c.1093_1095delGTC p.V365delV RefSeq GRCh38/hg38
XM_011522639 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_005255529 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001406676.1 chr16:g.2061991_2061993delTGT c.1093_1095delTGT p.C365delC RefSeq GRCh38/hg38
XM_017023616 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001318832.2 chr16:g.2060754_2060756delCAG c.1093_1095delCAG p.Q365delQ RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001406679.1 chr16:g.2061991_2061993delTGT c.1093_1095delTGT p.C365delC RefSeq GRCh38/hg38
NM_001406670.1 chr16:g.2061955_2061957delGGG c.1093_1095delGGG p.G365delG RefSeq GRCh38/hg38
XM_011522640 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001406683.1 chr16:g.2065612_2065614delCTG c.1093_1095delCTG p.L365delL RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_011522638 chr16:g.2058829_2058831delTCT c.1093_1095delTCT p.S365delS RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001406695.1 chr16:g.2074282_2074284delTGG c.1094_1096delTGG p.V365delV RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.2060800_2060802delTTC c.1094_1096delTTC p.L365delL RefSeq GRCh38/hg38
XM_011522638.2 chr16:g.2058829_2058831delTCT c.1093_1095delTCT p.S365delS RefSeq GRCh38/hg38
NM_001406680.1 chr16:g.2065612_2065614delCTG c.1093_1095delCTG p.L365delL RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_017023615 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_017023617 chr16:g.2058829_2058831delTCT c.1093_1095delTCT p.S365delS RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001406682.1 chr16:g.2065612_2065614delCTG c.1093_1095delCTG p.L365delL RefSeq GRCh38/hg38
XM_017023618.1 chr16:g.2074282_2074284delTGG c.1094_1096delTGG p.V365delV RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001406691.1 chr16:g.2074282_2074284delTGG c.1094_1096delTGG p.V365delV RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001406685.1 chr16:g.2065612_2065614delCTG c.1093_1095delCTG p.L365delL RefSeq GRCh38/hg38
NM_001318827.2 chr16:g.2061955_2061957delGGG c.1093_1095delGGG p.G365delG RefSeq GRCh38/hg38
NM_001406688.1 chr16:g.2065612_2065614delCTG c.1093_1095delCTG p.L365delL RefSeq GRCh38/hg38
NM_001318832.1 chr16:g.2060754_2060756delCAG c.1093_1095delCAG p.Q365delQ RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001406693.1 chr16:g.2074282_2074284delTGG c.1094_1096delTGG p.V365delV RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001318827.1 chr16:g.2061955_2061957delGGG c.1093_1095delGGG p.G365delG RefSeq GRCh38/hg38
NM_001406667.1 chr16:g.2060698_2060700delCCT c.1094_1096delCCT p.S365delS RefSeq GRCh38/hg38
NM_001406692.1 chr16:g.2074282_2074284delTGG c.1094_1096delTGG p.V365delV RefSeq GRCh38/hg38
NM_001406671.1 chr16:g.2060800_2060802delTTC c.1094_1096delTTC p.L365delL RefSeq GRCh38/hg38
NM_001318829.1 chr16:g.2061991_2061993delTGT c.1093_1095delTGT p.C365delC RefSeq GRCh38/hg38
NM_001406690.1 chr16:g.2074282_2074284delTGG c.1094_1096delTGG p.V365delV RefSeq GRCh38/hg38
NM_001406698.1 chr16:g.2076123_2076125delAGG c.1093_1095delAGG p.R365delR RefSeq GRCh38/hg38
NM_001406675.1 chr16:g.2061991_2061993delTGT c.1093_1095delTGT p.C365delC RefSeq GRCh38/hg38
NM_001318831.2 chr16:g.2065612_2065614delCTG c.1093_1095delCTG p.L365delL RefSeq GRCh38/hg38
NM_001406687.1 chr16:g.2065612_2065614delCTG c.1093_1095delCTG p.L365delL RefSeq GRCh38/hg38
XM_011522638.3 chr16:g.2061955_2061957delGGG c.1093_1095delGGG p.G365delG RefSeq GRCh38/hg38
NM_001318827 chr16:g.2061955_2061957delGGG c.1093_1095delGGG p.G365delG RefSeq GRCh38/hg38
NM_001318829 chr16:g.2061991_2061993delTGT c.1093_1095delTGT p.C365delC RefSeq GRCh38/hg38
NM_001406689.1 chr16:g.2074282_2074284delTGG c.1094_1096delTGG p.V365delV RefSeq GRCh38/hg38
NM_001406668.1 chr16:g.2060698_2060700delCCT c.1094_1096delCCT p.S365delS RefSeq GRCh38/hg38
NM_001318829.2 chr16:g.2061991_2061993delTGT c.1093_1095delTGT p.C365delC RefSeq GRCh38/hg38
NM_001077183 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001318832 chr16:g.2060754_2060756delCAG c.1093_1095delCAG p.Q365delQ RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001318831 chr16:g.2065612_2065614delCTG c.1093_1095delCTG p.L365delL RefSeq GRCh38/hg38
NM_001406696.1 chr16:g.2074282_2074284delTGG c.1094_1096delTGG p.V365delV RefSeq GRCh38/hg38
NM_001406678.1 chr16:g.2061955_2061957delGGG c.1093_1095delGGG p.G365delG RefSeq GRCh38/hg38
NM_001114382 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_011522637 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_017023617.1 chr16:g.2058829_2058831delTCT c.1093_1095delTCT p.S365delS RefSeq GRCh38/hg38
NM_001406697.1 chr16:g.2074282_2074284delTGG c.1094_1096delTGG p.V365delV RefSeq GRCh38/hg38
NM_001406684.1 chr16:g.2065612_2065614delCTG c.1093_1095delCTG p.L365delL RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001318831.1 chr16:g.2065612_2065614delCTG c.1093_1095delCTG p.L365delL RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_005255531 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001406681.1 chr16:g.2064383_2064385delTGC c.1093_1095delTGC p.C365delC RefSeq GRCh38/hg38
XM_011522636 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
XM_017023618 chr16:g.2074282_2074284delTGG c.1094_1096delTGG p.V365delV RefSeq GRCh38/hg38
NM_001406694.1 chr16:g.2074282_2074284delTGG c.1094_1096delTGG p.V365delV RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_000548 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2060787_2060789delATC c.1093_1095delATC p.I365delI RefSeq GRCh38/hg38
NM_001406686.1 chr16:g.2065612_2065614delCTG c.1093_1095delCTG p.L365delL RefSeq GRCh38/hg38

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