SWISSVAR
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1 protein found in SwissVar (47 variants)

with gene/protein name P52701

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)
P52701 MSH6_HUMAN hereditary non-polyposis colorectal cancer 5 p.Ala20Val
p.Ala25Ser
p.Arg128Leu
p.Ser144Ile
p.Ala326Val
p.Leu396Val
p.Met492Val
p.Ser503Cys
p.Gly566Arg
p.Lys610Asn
p.Pro623Leu
p.Lys728Thr
p.Arg772Trp
p.Tyr850Cys
p.Val878Ala
p.Asp1026Tyr
p.Pro1087Ser
p.Pro1087Thr
p.Arg1095His
p.Glu1163Val
p.Glu1193Lys
p.Thr1225Met
p.Leu1354Gln





2O8DB (396)
2O8BB (492)
2O8BB (503)
2O8BB (566)

2O8BB (623)
2O8BB (728)
2O8BB (772)
2O8BB (850)
2O8BB (878)


2O8BB (1087)
2O8BB (1095)
2O8BB (1163)
2O8BB (1193)


P52701 MSH6_HUMAN endometrial cancer p.Ala20Val
p.Leu449Pro
p.Val878Ala
p.Arg901His

2O8BB (449)
2O8BB (878)
2O8BB (901)
P52701 MSH6_HUMAN mismatch repair cancer syndrome
P52701 MSH6_HUMAN colorectal cancer p.Ala20Val
p.Gly54Ala
p.Lys99Asn
p.Ser144Ile
p.Ser285Ile
p.Phe340Ser
p.Leu449Pro
p.Gln522Arg
p.Gly566Arg
p.Glu619Asp
p.Gly685Ala
p.Ile725Met
p.Arg772Gln
p.Ala787Val
p.Val800Ala
p.Asp803Gly
p.Tyr850Cys
p.Lys854Met
p.Val878Ala
p.Arg901His
p.Arg976His
p.Ala1021Asp
p.Asp1031Val
p.Arg1076Cys
p.Pro1087Thr
p.Arg1095His
p.Thr1100Met
p.Cys1158Arg
p.Thr1219Ile
p.His1248Asp
p.Thr1284Met
p.Leu1354Gln






2O8BB (449)
2O8BB (522)
2O8BB (566)
2O8BB (619)
2O8BB (685)

2O8BB (772)
2O8BB (787)
2O8DB (800)
2O8BB (803)
2O8BB (850)
2O8BB (854)
2O8BB (878)
2O8BB (901)
2O8DB (976)
2O8BB (1021)
2O8BB (1031)
2O8BB (1076)
2O8BB (1087)
2O8BB (1095)

2O8BB (1158)
2O8BB (1219)
2O8BB (1248)
2O8DB (1284)