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Gene MLH1
Variant A111P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MLH1 A111P lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). A111P confers a loss of function on Mlh1, as indicated by reduced expression of Pms2 and Mlh1 in culture (PMID: 36054288) and a loss of mismatch repair activity (MMR) in in vitro assays (PMID: 20020535, PMID: 17510385) and in cell culture (PMID: 31784484, PMID: 36054288).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 A111P

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Transcript NM_000249.4
gDNA chr3:g.37004425G>C
cDNA c.331G>C
Protein p.A111P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354630.2 chr3:g.37004425G>C c.331G>C p.A111P RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37004425G>C c.331G>C p.A111P RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37004425G>C c.331G>C p.A111P RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37004425G>C c.331G>C p.A111P RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37004425G>C c.331G>C p.A111P RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37004425G>C c.331G>C p.A111P RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37004425G>C c.331G>C p.A111P RefSeq GRCh38/hg38
XM_005265161 chr3:g.37004425G>C c.331G>C p.A111P RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37004425G>C c.331G>C p.A111P RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37004425G>C c.331G>C p.A111P RefSeq GRCh38/hg38
NM_000249 chr3:g.37004425G>C c.331G>C p.A111P RefSeq GRCh38/hg38
NM_001258271 chr3:g.37004425G>C c.331G>C p.A111P RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37004425G>C c.331G>C p.A111P RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
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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 Protein Effect Treatment Approaches
MLH1 A111P loss of function