SWISSVAR
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1 protein found in SwissVar (22 variants)

with gene/protein name P54278

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)
P54278 PMS2_HUMAN hereditary non-polyposis colorectal cancer 4 p.Ser46Asn
p.Ser46Ile
p.Ala182Thr
p.Gln205Pro
p.Gly207Glu
p.Leu263Val
p.His479Gln
p.Leu585Ile
p.Met622Ile
p.Glu663Ala
p.Glu705Lys
p.Gly750Asp
p.Met797Arg
p.Cys843Tyr














P54278 PMS2_HUMAN mismatch repair cancer syndrome p.Ser46Ile
p.Ile66Thr
p.Arg107Trp
p.Cys115Gly
p.Gln205Pro
p.Leu263Val
p.Asn307Lys
p.Pro437Ser
p.His479Gln
p.Ala488Val
p.Glu504Gln
p.Leu585Ile
p.Glu705Lys
p.Ser815Leu