Search Database

Gene
DNA change (e.g. c.3415G>A)
Protein change (e.g. p.Gly1139Ser)
Codon
Variant type
Author (last name of first author)
Year Published
Note: All variants are named according to the nomenclature described by the Human Genomic Variant Society (HGVS) as of August 25th, 2006.
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Below are the reference sequences used for describing the alleles found in this database.
  Genomic Transcript Protein
MLH1 AC011816.17 NM_000249.2 NP_000240.1
MSH2 AC079775.6 NM_000251.1 NP_000242.1
MSH6 AC006509.15 NM_000179.1 NP_000170.1
PMS2 AC005995.3 NM_000535.4 NP_000526

Please use the following citation when referencing this database and website:
M.O. Woods, P. Williams, A. Careen, L. Edwards, S. Bartlett, J. McLaughlin, H. B. Younghusband. (2007). A new variant database for mismatch repair genes associated with Lynch syndrome. Hum. Mut. 28: 669-673.