Gene Variant Detail

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Gene MLH1
Variant I330del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions MLH1 I330del results in the deletion of an amino acid in the ATPase domain of the Mlh1 protein (PMID: 22753075) at amino acid 330. I330del confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in-vitro assay and altered subcellular localization as compared to wild-type (PMID: 21120944).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 I330del

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Transcript NM_000249.4
gDNA chr3:g.37020413_37020415delATC
cDNA c.988_990delATC
Protein p.I330delI
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354616.2 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354623.2 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001354620.2 chr3:g.37025882_37025884delTGA c.990_992delTGA p.D330delD RefSeq GRCh38/hg38
NM_001354627.2 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_001354621.2 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
NM_001354617.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37025794_37025796delCTC c.989_991delCTC p.P330delP RefSeq GRCh38/hg38
NM_001258273.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_047448154.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_005265166 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001167618.3 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_017006451 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37025882_37025884delTGA c.990_992delTGA p.D330delD RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
NM_001167619.2 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_017006449 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.37025689_37025691delCAA c.992_994delCAA p.T331delT RefSeq GRCh38/hg38
XM_047448155.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001167617.3 chr3:g.37025882_37025884delTGA c.990_992delTGA p.D330delD RefSeq GRCh38/hg38
NM_001258273.2 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_017006450.2 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001354619.2 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354622.2 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
NM_001167618.2 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354627.1 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37025882_37025884delTGA c.990_992delTGA p.D330delD RefSeq GRCh38/hg38
NM_001354623.1 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001354626.1 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_001258274.2 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354625.2 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
XM_011533727 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
XM_005265161 chr3:g.37025794_37025796delCTC c.989_991delCTC p.P330delP RefSeq GRCh38/hg38
NM_001354619.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354618.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001167618 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37025794_37025796delCTC c.989_991delCTC p.P330delP RefSeq GRCh38/hg38
XM_047448152.1 chr3:g.37025689_37025691delCAA c.992_994delCAA p.T331delT RefSeq GRCh38/hg38
NM_001354622.1 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001167619.3 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001258271 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
NM_001354625.1 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_000249 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
NM_001354624.1 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_001167619 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354626.2 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_001354615.2 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354616.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001167617 chr3:g.37025882_37025884delTGA c.990_992delTGA p.D330delD RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
XM_047448153.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_005265163 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_005265164 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
NM_001354618.2 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354617.2 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354615.1 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
NM_001354621.1 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001258274.3 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.37025689_37025691delCAA c.992_994delCAA p.T331delT RefSeq GRCh38/hg38
NM_001258273 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38
XM_017006450 chr3:g.37048925_37048927delGAA c.988_990delGAA p.E330delE RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37020413_37020415delATC c.988_990delATC p.I330delI RefSeq GRCh38/hg38
NM_001354624.2 chr3:g.37048976_37048978delAAG c.988_990delAAG p.K330delK RefSeq GRCh38/hg38
NM_001258274 chr3:g.37042311_37042313delTTT c.988_990delTTT p.F330delF RefSeq GRCh38/hg38

Filtering

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries