SWISSVAR
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1 protein found in SwissVar (120 variants)

with gene/protein name P40692

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P40692 MLH1_HUMAN hereditary non-polyposis colorectal cancer 2 p.Arg18Cys
p.Ile19Phe
p.Ala21Val
p.Ile25Phe
p.Pro28Leu
p.Ala29Ser
p.Ala31Cys
p.Met35Lys
p.Met35Arg
p.Glu37Lys
p.Asn38Lys
p.Asn38His
p.Asp41Gly
p.Ser44Phe
p.Gln62Lys
p.Asp63Glu
p.Asn64Ser
p.Gly67Arg
p.Gly67Trp
p.Ile68Asn
p.Arg69Lys
p.Cys77Arg
p.Phe80Val
p.Lys84Glu
p.Gly101Asp
p.Glu102Lys
p.Ile107Arg
p.His109Pro
p.Ala111Pro
p.Ala111Val
p.Thr117Met
p.Thr117Arg
p.Ala128Pro
p.Leu155Arg
p.Arg182Lys
p.Arg182Gly
p.Val185Gly
p.Val185Leu
p.Ser193Pro
p.Arg217Cys
p.Arg226Leu
p.Glu234Gly
p.Gly244Asp
p.Ser247Pro
p.Leu260Phe
p.His264Tyr
p.Arg265Ser
p.Arg265Cys
p.Ala282Gly
p.Leu292Pro
p.Ser295Thr
p.Asp304Val
p.Ser321Ile
p.Val326Ala
p.His329Pro
p.Asn338Ser
p.Tyr379Cys
p.Arg385Cys
p.Arg385Pro
p.Arg389Trp
p.Ala441Thr
p.Lys443Gln
p.Glu460Ala
p.Arg474Gln
p.Asp485His
p.Asp485Glu
p.Ala492Thr
p.Val506Ala
p.Gln542Leu
p.Gln542Pro
p.Leu549Pro
p.Leu550Pro
p.Asn551Thr
p.Leu559Arg
p.Ile565Phe
p.Leu574Pro
p.Glu578Gly
p.Leu582Phe
p.Leu582Val
p.Ala586Pro
p.Leu588Pro
p.Ala589Asp
p.Pro603Arg
p.Leu607His
p.Lys618Thr
p.Lys618Ala
p.Leu622His
p.Ala623Pro
p.Asp631Ala
p.Leu636Pro
p.Pro640Ser
p.Tyr646Cys
p.Pro648Leu
p.Pro648Ser
p.Pro654Leu
p.Ile655Val
p.Phe656Ser
p.Arg659Leu
p.Arg659Gln
p.Arg659Pro
p.Thr662Pro
p.Trp666Arg
p.Ala681Thr
p.Arg687Trp
p.His718Tyr
p.Leu724Met
p.Lys751Arg











































































































P40692 MLH1_HUMAN mismatch repair cancer syndrome p.Met35Asn

P40692 MLH1_HUMAN muir-torre syndrome
P40692 MLH1_HUMAN lobular carcinoma in situ
P40692 MLH1_HUMAN endometrial cancer
P40692 MLH1_HUMAN individuals in whom 1 allele of the mlh1 gene is epigenetically silenced throughout the soma
P40692 MLH1_HUMAN colorectal cancer p.Gly54Glu
p.Gly67Glu
p.Cys77Tyr
p.Asp132His
p.Gly244Val
p.Leu260Arg
p.Glu268Gly
p.Arg325Gln
p.Arg472Ile
p.Glu578Gly
p.Asp601Gly
p.Lys618Arg
p.Ala681Thr
p.Leu749Pro