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Gene MLH1
Variant V384D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 V384D does not lie within any known functional domains of the Mlh1 protein (UniProt.org). V384D confers a loss of function to Mlh1, as indicated by decreased binding to Pms2 (PMID: 27173243, PMID: 18094436) and reduced MMR activity in in vitro assays (PMID: 17510385).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 V384D

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Transcript NM_000249.4
gDNA chr3:g.37025749T>A
cDNA c.1151T>A
Protein p.V384D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.1 chr3:g.37025749T>A c.1151T>A p.V384D RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37025749T>A c.1151T>A p.V384D RefSeq GRCh38/hg38
NM_001167617 chr3:g.37028819_37028820delTGinsAC c.1151_1152delTGinsAC p.V384D RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37025749T>A c.1151T>A p.V384D RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37028819_37028820delTGinsAC c.1151_1152delTGinsAC p.V384D RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37025749T>A c.1151T>A p.V384D RefSeq GRCh38/hg38
NM_001167617.3 chr3:g.37028819_37028820delTGinsAC c.1151_1152delTGinsAC p.V384D RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37025749T>A c.1151T>A p.V384D RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37025749T>A c.1151T>A p.V384D RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37025749T>A c.1151T>A p.V384D RefSeq GRCh38/hg38
NM_001354620.2 chr3:g.37028819_37028820delTGinsAC c.1151_1152delTGinsAC p.V384D RefSeq GRCh38/hg38
NM_000249 chr3:g.37025749T>A c.1151T>A p.V384D RefSeq GRCh38/hg38
NM_001258271 chr3:g.37025749T>A c.1151T>A p.V384D RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37025749T>A c.1151T>A p.V384D RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37028819_37028820delTGinsAC c.1151_1152delTGinsAC p.V384D 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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries