MLH1 S368L
Gene Variant Detail

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Gene MLH1
Variant S368L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MLH1 S368L does not lie within any known functional domains of the Mlh1 protein (UniProt.org). S368L has been identified in sequencing studies (PMID: 31391288, PMID: 37273678), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jul 2025).
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 S368L

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Transcript NM_000249.4
gDNA chr3:g.37025701C>T
cDNA c.1103C>T
Protein p.S368L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354628.2 chr3:g.37025701C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001167617 chr3:g.37025994_37025995delTCinsCT c.1102_1103delTCinsCT p.S368L RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37025994_37025995delTCinsCT c.1102_1103delTCinsCT p.S368L RefSeq GRCh38/hg38
NM_001354625.1 chr3:g.37050559C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001258271 chr3:g.37025701C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37025701C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001167617.3 chr3:g.37025994_37025995delTCinsCT c.1102_1103delTCinsCT p.S368L RefSeq GRCh38/hg38
XM_047448152.1 chr3:g.37025799_37025800delAGinsCT c.1102_1103delAGinsCT p.S368L RefSeq GRCh38/hg38
NM_001354627.1 chr3:g.37050559C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37025701C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001354625.2 chr3:g.37050559C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001354620.2 chr3:g.37025994_37025995delTCinsCT c.1102_1103delTCinsCT p.S368L RefSeq GRCh38/hg38
NM_001354626.2 chr3:g.37050559C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37025701C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
XM_017006451 chr3:g.37050559C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_000249 chr3:g.37025701C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001354626.1 chr3:g.37050559C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001354624.1 chr3:g.37050559C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37025701C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37025701C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37025701C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001354629.2 chr3:g.37025799_37025800delAGinsCT c.1102_1103delAGinsCT p.S368L RefSeq GRCh38/hg38
NM_001354627.2 chr3:g.37050559C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.37025799_37025800delAGinsCT c.1102_1103delAGinsCT p.S368L RefSeq GRCh38/hg38
NM_001354624.2 chr3:g.37050559C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
XM_011533727 chr3:g.37050559C>T c.1103C>T p.S368L RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37025994_37025995delTCinsCT c.1102_1103delTCinsCT p.S368L RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37025701C>T c.1103C>T p.S368L 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
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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