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Results for the Protein: P43246
1171032

MSH2_HUMAN RecName: Full=DNA mismatch repair protein Msh2; Short=hMSH2; AltName: Full=MutS protein homolog 2

Known Diseases associated with this Protein:
  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1
  COLORECTAL CANCER, HEREDITARY, NONPOLYPOSIS, TYPE 1
  HEREDITARY NON-POLYPOSIS COLORECTAL CANCER 1 (HNPCC1)
  MUIR-TORRE SYNDROME
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6
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MutS_III - pfam05192
MUTSd - smart00533
MUTSac - smart00534


Swiss-Prot Protein: P43246
Identical to: NP_000242
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MutS_IIIpfam051923.6e-119297614
MUTSdsmart005337.9e-110323645
MUTSacsmart005343.6e-127664848

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_043791Polymorphismp.ALA870GLYN/A
Swiss-ProtVAR_068706Polymorphismp.ALA328PRON/A
Swiss-ProtVAR_012944Diseasep.ALA636PROHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_054511Diseasep.ALA2THRHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_004476Diseasep.ALA305THRHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_004488Diseasep.ALA834THRHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043756Polymorphismp.ALA272VALN/A
Swiss-ProtVAR_043741Diseasep.ALA45VALHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043771Diseasep.ALA600VALHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043780Polymorphismp.ALA714VALN/A
Swiss-ProtVAR_054517Polymorphismp.ARG638GLYN/A
Swiss-ProtVAR_004471Polymorphismp.ARG96HISN/A
Swiss-ProtVAR_038026Polymorphismp.ARG106LYSN/A
Swiss-ProtVAR_004479Diseasep.ARG524PROHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043764Diseasep.ARG359SERHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_054514Polymorphismp.ASN331ASPN/A
Swiss-ProtVAR_038030Polymorphismp.ASN835HISN/A
dbSNPrs17217772 Diseasep.ASN127SERHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_004472Diseasep.ASN139SERHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043770Diseasep.ASN583SERHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_012943Polymorphismp.ASN596SERN/A
Swiss-ProtVAR_043778Polymorphismp.ASN671TYRN/A
Swiss-ProtVAR_043772Diseasep.ASP603ASNHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_068708Polymorphismp.ASP487GLUN/A
Swiss-ProtVAR_022671Diseasep.ASP660GLYHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_004474Diseasep.ASP167HISHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043757Diseasep.ASP283TYRHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_012941Polymorphismp.ASP506TYRN/A
Swiss-ProtVAR_054520Polymorphismp.ASP748TYRN/A
Swiss-ProtVAR_012937Polymorphismp.CYS199ARGN/A
Swiss-ProtVAR_009251Diseasep.CYS697ARGHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_004484Polymorphismp.CYS641GLYN/A
Swiss-ProtVAR_067292Polymorphismp.CYS843GLYN/A
Swiss-ProtVAR_043792Polymorphismp.CYS873GLYN/A
Swiss-ProtVAR_004486Diseasep.CYS697PHEHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043759Diseasep.CYS333TYRHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043774Polymorphismp.GLN629ARGN/A
Swiss-ProtVAR_054518Polymorphismp.GLN645GLUN/A
Swiss-ProtVAR_043787Polymorphismp.GLN824GLUN/A
Swiss-ProtVAR_012940Polymorphismp.GLN419LYSN/A
Swiss-ProtVAR_043789Polymorphismp.GLU853ALAN/A
Swiss-ProtVAR_068705Polymorphismp.GLU205GLNN/A
Swiss-ProtVAR_054513Diseasep.GLU198GLYHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043793Diseasep.GLU886GLYHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_067285Polymorphismp.GLU177HISN/A
Swiss-ProtVAR_043776Diseasep.GLU647LYSHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043785Diseasep.GLU749LYSHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_004480Diseasep.GLU562VALHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_054512Diseasep.GLY162ALAHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043747Diseasep.GLY162ARGHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043749Diseasep.GLY164ARGHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043754Polymorphismp.GLY203ARGN/A
Swiss-ProtVAR_067761Diseasep.GLY669ARGHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_067288Diseasep.GLY674ARGHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_009250Diseasep.GLY692ARGHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_004477Polymorphismp.GLY322ASPN/A
Swiss-ProtVAR_067290Polymorphismp.GLY759GLUN/A
Swiss-ProtVAR_043739Polymorphismp.GLY40SERN/A
Swiss-ProtVAR_004485Diseasep.GLY674SERHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043775Diseasep.HIS639ARGHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043788Diseasep.HIS839ARGHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_054516Polymorphismp.HIS610ASNN/A
Swiss-ProtVAR_004470Diseasep.HIS46GLNHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_054521Polymorphismp.HIS839GLNN/A
Swiss-ProtVAR_004483Diseasep.HIS639TYRHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_004473Diseasep.ILE145METHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043779Diseasep.ILE679THRHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043750Polymorphismp.ILE169VALN/A
Swiss-ProtVAR_012938Polymorphismp.ILE216VALN/A
Swiss-ProtVAR_004487Polymorphismp.ILE770VALN/A
Swiss-ProtVAR_038031Polymorphismp.LEU911ARGN/A
Swiss-ProtVAR_004478Polymorphismp.LEU390PHEN/A
Swiss-ProtVAR_043743Diseasep.LEU93PHEHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043751Diseasep.LEU173PROHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043752Diseasep.LEU175PROHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043753Diseasep.LEU187PROHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_067291Polymorphismp.LEU805VALN/A
Swiss-ProtVAR_067289Polymorphismp.LYS675ALAN/A
Swiss-ProtVAR_043755Polymorphismp.LYS246GLNN/A
Swiss-ProtVAR_013172Diseasep.LYS845GLUHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_068709Polymorphismp.LYS909ILEN/A
Swiss-ProtVAR_043765Diseasep.LYS393METHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043746Diseasep.LYS110THRHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043795Diseasep.LYS931THRHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_012945Diseasep.MET688ILEHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_038028Polymorphismp.MET779ILEN/A
Swiss-ProtVAR_043767Diseasep.MET492VALHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043782Diseasep.MET729VALHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043786Diseasep.MET813VALHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_067287Polymorphismp.PHE519LEUN/A
Swiss-ProtVAR_043790Polymorphismp.PRO868ALAN/A
Swiss-ProtVAR_043763Diseasep.PRO349LEUHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_067286Polymorphismp.PRO385LEUN/A
Swiss-ProtVAR_004482Diseasep.PRO622LEUHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_038027Polymorphismp.PRO670LEUN/A
Swiss-ProtVAR_054519Polymorphismp.PRO696LEUN/A
Swiss-ProtVAR_043761Diseasep.PRO336SERHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_012942Polymorphismp.SER554ARGN/A
Swiss-ProtVAR_012939Polymorphismp.SER323CYSN/A
Swiss-ProtVAR_043736Polymorphismp.SER13ILEN/A
Swiss-ProtVAR_067293Polymorphismp.SER860LEUN/A
Swiss-ProtVAR_043781Diseasep.SER723PHEHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043758Polymorphismp.SER323TYRN/A
Swiss-ProtVAR_043769Polymorphismp.THR564ALAN/A
Swiss-ProtVAR_004489Polymorphismp.THR905ARGN/A
Swiss-ProtVAR_043760Polymorphismp.THR335ILEN/A
Swiss-ProtVAR_043783Diseasep.THR732ILEHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043740Diseasep.THR44METHereditary non-polyposis colorectal cancer 1 (HNPCC1)
dbSNPrs17217716 Polymorphismp.THR8METN/A
Swiss-ProtVAR_043738Diseasep.THR33PROHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043768Diseasep.THR552PROHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_038029Polymorphismp.THR807SERN/A
Swiss-ProtVAR_067284Polymorphismp.TYR165ASPN/A
Swiss-ProtVAR_019233Polymorphismp.TYR43CYSN/A
Swiss-ProtVAR_043773Polymorphismp.TYR619CYSN/A
Swiss-ProtVAR_043744Polymorphismp.TYR98CYSN/A
Swiss-ProtVAR_043777Diseasep.TYR656HISHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_012936Diseasep.VAL161ASPHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043748Diseasep.VAL163ASPHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_054515Polymorphismp.VAL470GLUN/A
Swiss-ProtVAR_043794Polymorphismp.VAL923GLUN/A
Swiss-ProtVAR_022670Diseasep.VAL163GLYHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043745Diseasep.VAL102ILEHereditary non-polyposis colorectal cancer 1 (HNPCC1)
Swiss-ProtVAR_043762Polymorphismp.VAL342ILEN/A
Swiss-ProtVAR_068707Polymorphismp.VAL367ILEN/A
Swiss-ProtVAR_043737Polymorphismp.VAL17PHEN/A
OMIM609309.0012 Diseasep.ALA636PROCOLORECTAL CANCER, HEREDITARY, NONPOLYPOSIS, TYPE 1
OMIM609309.0007 Diseasep.ARG524PROCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1
OMIM609309.0003 Diseasep.ARG406TERCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1
OMIM609309.0006 Diseasep.GLN601TERMUIR-TORRE SYNDROME
OMIM609309.0004 Diseasep.HIS639TYRCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1
OMIM609309.0001 Diseasep.PRO622LEUCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1



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