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Gene MLH1
Variant D72Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 D72Y lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). D72Y has been identified in sequencing studies (PMID: 22941189, PMID: 37960754), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 D72Y

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Transcript NM_000249.4
gDNA chr3:g.37000961G>T
cDNA c.214G>T
Protein p.D72Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.1 chr3:g.37000961G>T c.214G>T p.D72Y RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37000961G>T c.214G>T p.D72Y RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37000961G>T c.214G>T p.D72Y RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37000961G>T c.214G>T p.D72Y RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37000961G>T c.214G>T p.D72Y RefSeq GRCh38/hg38
NM_001258271 chr3:g.37000961G>T c.214G>T p.D72Y RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37000961G>T c.214G>T p.D72Y RefSeq GRCh38/hg38
NM_000249 chr3:g.37000961G>T c.214G>T p.D72Y RefSeq GRCh38/hg38
XM_005265161.3 chr3:g.37000961G>T c.214G>T p.D72Y RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37000961G>T c.214G>T p.D72Y RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37000961G>T c.214G>T p.D72Y RefSeq GRCh38/hg38
XM_005265161 chr3:g.37000961G>T c.214G>T p.D72Y RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37000961G>T c.214G>T p.D72Y RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries