MSH6 variant:MSH2-defective DNA mismatch repair

Stable Identifier
R-HSA-5632970
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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MSH6 encodes a G/T mismatch-binding protein. The MSH6 LEU222TER variant is a 1-bp deletion within the MSH6 gene in the Human colon adenocarcinoma cell line, HCT-15. The variant occurs at codon 222, changing a leucine to a termination codon. The same study also idetified a 5-bp deletion/substitution at codon 1103 (TTGATAGAGT to TTTGT), which created a new termination codon 9-bp downstream (Papadopoulos et al., 1995).

Literature References
PubMed ID Title Journal Year
7604266 Mutations of GTBP in genetically unstable cells

Papadopoulos, N, Nicolaides, NC, Liu, B, Parsons, R, Lengauer, C, Palombo, F, D'Arrigo, A, Markowitz, S, Willson, JK, Kinzler, KW

Science 1995
Participants
Participant Of
Normal reaction
Disease
Name Identifier Synonyms
colorectal cancer 9256
Authored
Reviewed
Created
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