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Gene | MSH6 |
Variant | K185T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MSH6 K185T does not lie within any known functional domains of the Msh6 protein (UniProt.org). K185T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Msh6 protein function is unknown (PubMed, Apr 2025). |
Associated Drug Resistance | |
Category Variants Paths |
MSH6 mutant MSH6 K185T |
Transcript | NM_000179.3 |
gDNA | chr2:g.47795990A>C |
cDNA | c.554A>C |
Protein | p.K185T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |