MLH1 S505Vfs*3 - Gene Variant Detail

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Gene MLH1
Variant S505Vfs*3
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions MLH1 S505Vfs*3 indicates a shift in the reading frame starting at amino acid 505 and terminating 3 residues downstream causing a premature truncation of the 756 amino acid Mlh1 protein (UniProt.org). Due to the loss of the C-terminal domain (PMID: 16338176), S505Vfs*3 is predicted to lead to a loss of Mlh1 protein function.
Associated Drug Resistance
Category Variants Paths

MLH1 mutant MLH1 inact mut MLH1 S505Vfs*3

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Transcript NM_000249.4
gDNA chr3:g.37028887delA
cDNA c.1513delA
Protein p.S505Vfs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001258271.1 chr3:g.37028887delA c.1513delA p.S505Vfs*3 RefSeq GRCh38/hg38
NM_001354628.2 chr3:g.37028887delA c.1513delA p.S505Vfs*3 RefSeq GRCh38/hg38
NM_001258271 chr3:g.37028886delT c.1512delT p.S505Vfs*3 RefSeq GRCh38/hg38
NM_001258271.2 chr3:g.37028887delA c.1513delA p.S505Vfs*3 RefSeq GRCh38/hg38
NM_001354630.2 chr3:g.37028887delA c.1513delA p.S505Vfs*3 RefSeq GRCh38/hg38
NM_000249 chr3:g.37028886delT c.1512delT p.S505Vfs*3 RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37028887delA c.1513delA p.S505Vfs*3 RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37028887delA c.1513delA p.S505Vfs*3 RefSeq GRCh38/hg38
NM_000249.4 chr3:g.37028887delA c.1513delA p.S505Vfs*3 RefSeq GRCh38/hg38
NM_000249.3 chr3:g.37028887delA c.1513delA p.S505Vfs*3 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")

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