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Gene Symbol MSH6
Synonyms GTBP | GTMBP | HNPCC5 | HSAP | p160
Gene Description MSH6, mutS homolog 6, binds with Msh2 to form the MutS-alpha complex, which functions in initiation of the DNA mismatch repair system (PMID: 23391514) and is associated with microsatellite instability (MSI) (PMID: 30121009). Mutations in MSH6 are associated with susceptibility to colon cancer and endometrial cancer (PMID: 20028993), and germline MSH6 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (PMID: 15528792).
ACMG Incidental List v2.0:
Yes, Lynch syndrome (PMID: 27854360)

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Molecular Profile Protein Effect Treatment Approaches
MSH6 A1055P loss of function - predicted
MSH6 A1064T unknown
MSH6 A1204E unknown
MSH6 A1204P unknown
MSH6 A175T unknown
MSH6 A175V unknown
MSH6 A20V unknown
MSH6 A25S no effect
MSH6 A297T unknown
MSH6 A322V unknown
MSH6 A339D unknown
MSH6 A457D unknown
MSH6 A457V unknown
MSH6 A64V unknown
MSH6 A81T unknown
MSH6 amp no effect
MSH6 C1165R loss of function - predicted
MSH6 C496Y unknown
MSH6 C615F unknown
MSH6 C694R loss of function - predicted
MSH6 C88W unknown
MSH6 D1171fs loss of function - predicted
MSH6 D1213E loss of function - predicted
MSH6 D1213G loss of function - predicted
MSH6 D197H unknown
MSH6 D358E unknown
MSH6 D358N unknown
MSH6 D390N unknown
MSH6 D422G unknown
MSH6 D530Y unknown
MSH6 D667V unknown
MSH6 D803G loss of function - predicted
MSH6 D89E unknown
MSH6 E1163V unknown
MSH6 E1196* unknown
MSH6 E1214* unknown
MSH6 E1234* unknown
MSH6 E1254del unknown
MSH6 E1322* unknown
MSH6 E1322K unknown
MSH6 E171Q unknown
MSH6 E181A unknown
MSH6 E220D unknown
MSH6 E224* loss of function - predicted
MSH6 E286K unknown
MSH6 E463* loss of function - predicted
MSH6 E484K unknown
MSH6 E544D unknown
MSH6 E544fs loss of function - predicted
MSH6 E597Q unknown
MSH6 E604* loss of function - predicted
MSH6 E619* loss of function - predicted
MSH6 E641* loss of function - predicted
MSH6 E908* loss of function - predicted
MSH6 E946* loss of function - predicted
MSH6 E956D unknown
MSH6 E993K unknown
MSH6 F1088fs unknown
MSH6 F1088Lfs*5 unknown
MSH6 F340S unknown
MSH6 F432L loss of function - predicted
MSH6 F432S loss of function - predicted
MSH6 F573fs loss of function - predicted
MSH6 F689L unknown
MSH6 F689V unknown
MSH6 F706S loss of function - predicted
MSH6 G1072C unknown
MSH6 G1139Afs*6 unknown
MSH6 G1139D loss of function - predicted
MSH6 G1139S loss of function
MSH6 G1157D loss of function - predicted
MSH6 G1299C unknown
MSH6 G1299D unknown
MSH6 G1316R unknown
MSH6 G141D unknown
MSH6 G289D unknown
MSH6 G39E unknown
MSH6 G39W unknown
MSH6 G467D unknown
MSH6 G520D loss of function - predicted
MSH6 G520V loss of function - predicted
MSH6 G529C unknown
MSH6 G557D loss of function - predicted
MSH6 G566R loss of function
MSH6 G624S unknown
MSH6 G686D loss of function - predicted
MSH6 G93E unknown
MSH6 H1248D loss of function
MSH6 H1248R unknown
MSH6 H367R loss of function - predicted
MSH6 H437R loss of function - predicted
MSH6 H458Y loss of function - predicted
MSH6 I1054F unknown
MSH6 I1109fs loss of function - predicted
MSH6 I1113S loss of function - predicted
MSH6 I1183K unknown
MSH6 I1183T unknown
MSH6 I1357N unknown
MSH6 I258T unknown
MSH6 I425T unknown
MSH6 I516N loss of function - predicted
MSH6 I516Sfs*55 loss of function - predicted
MSH6 I872fs loss of function - predicted
MSH6 I944V unknown
MSH6 I967K loss of function - predicted
MSH6 inact mut loss of function
MSH6 K1009I unknown
MSH6 K1013N unknown
MSH6 K1101N unknown
MSH6 K125* loss of function - predicted
MSH6 K1358Dfs*2 unknown
MSH6 K1358fs unknown
MSH6 K13T unknown
MSH6 K155R unknown
MSH6 K185T unknown
MSH6 K324R unknown
MSH6 K417E unknown
MSH6 K428T unknown
MSH6 K431T unknown
MSH6 K646R unknown
MSH6 K692N unknown
MSH6 K854M unknown
MSH6 K885N unknown
MSH6 K99N unknown
MSH6 L1063R loss of function - predicted
MSH6 L1143P loss of function - predicted
MSH6 L1167P loss of function - predicted
MSH6 L1211P loss of function - predicted
MSH6 L290* loss of function - predicted
MSH6 L373P unknown
MSH6 L403I unknown
MSH6 L423I unknown
MSH6 L449P loss of function - predicted
MSH6 L637P loss of function - predicted
MSH6 L681F unknown
MSH6 L773P loss of function - predicted
MSH6 L821P loss of function - predicted
MSH6 L893Q unknown
MSH6 L979V unknown
MSH6 loss loss of function
MSH6 M1137K loss of function - predicted
MSH6 M1156K unknown
MSH6 M452V unknown
MSH6 M868I unknown
MSH6 M868T unknown
MSH6 mutant unknown
MSH6 N1136K loss of function - predicted
MSH6 N897H unknown
MSH6 N960T unknown
MSH6 negative loss of function
MSH6 P1073S unknown
MSH6 P1077S unknown
MSH6 P1082L unknown
MSH6 P1082S unknown
MSH6 P1087R no effect
MSH6 P1087T no effect
MSH6 P1097S unknown
MSH6 P233S unknown
MSH6 P591Q unknown
MSH6 P768H unknown
MSH6 P781T unknown
MSH6 positive unknown
MSH6 Q485K unknown
MSH6 Q485R unknown
MSH6 Q618* loss of function - predicted
MSH6 Q698E unknown
MSH6 R1024W unknown
MSH6 R1034Q unknown
MSH6 R1076C unknown
MSH6 R1076H unknown
MSH6 R1095H no effect
MSH6 R128H unknown
MSH6 R1304K no effect - predicted
MSH6 R1331* unknown
MSH6 R1331Q unknown
MSH6 R1334W unknown
MSH6 R178H unknown
MSH6 R240* loss of function - predicted
MSH6 R361H unknown
MSH6 R383G unknown
MSH6 R468H no effect - predicted
MSH6 R482Q unknown
MSH6 R495* loss of function - predicted
MSH6 R511G loss of function - predicted
MSH6 R577H unknown
MSH6 R644S unknown
MSH6 R761M unknown
MSH6 R772W loss of function
MSH6 R791C unknown
MSH6 R791H unknown
MSH6 R922* loss of function - predicted
MSH6 R922Q no effect - predicted
MSH6 R959H unknown
MSH6 R961I unknown
MSH6 R976H unknown
MSH6 S1028L unknown
MSH6 S1049F unknown
MSH6 S1067I unknown
MSH6 S1188N loss of function - predicted
MSH6 S1208F unknown
MSH6 S1279N unknown
MSH6 S1329L unknown
MSH6 S1340G unknown
MSH6 S144I no effect
MSH6 S285I no effect - predicted
MSH6 S314I unknown
MSH6 S321* loss of function - predicted
MSH6 S341A unknown
MSH6 S360I unknown
MSH6 S394A unknown
MSH6 S503C unknown
MSH6 S580L loss of function - predicted
MSH6 S65L unknown
MSH6 S668C unknown
MSH6 S677I unknown
MSH6 S702* loss of function - predicted
MSH6 S884T loss of function - predicted
MSH6 S950I unknown
MSH6 T1008I loss of function - predicted
MSH6 T1010A unknown
MSH6 T1085fs unknown
MSH6 T1189I unknown
MSH6 T1205I unknown
MSH6 T1219I loss of function
MSH6 T1225M unknown
MSH6 T1238A unknown
MSH6 T1247S unknown
MSH6 T1284M unknown
MSH6 T269S unknown
MSH6 T521K loss of function - predicted
MSH6 T750P unknown
MSH6 T757I unknown
MSH6 T767I loss of function - predicted
MSH6 V1056M unknown
MSH6 V1350A unknown
MSH6 V304A unknown
MSH6 V398E loss of function - predicted
MSH6 V424G loss of function - predicted
MSH6 V450A unknown
MSH6 V480E loss of function - predicted
MSH6 V480L unknown
MSH6 V508E loss of function - predicted
MSH6 V509A no effect - predicted
MSH6 V509E loss of function - predicted
MSH6 V688D loss of function - predicted
MSH6 V800L unknown
MSH6 V878A unknown
MSH6 W1047* loss of function - predicted
MSH6 W142* loss of function - predicted
MSH6 W372R loss of function - predicted
MSH6 W413R loss of function - predicted
MSH6 W628* loss of function - predicted
MSH6 W777* loss of function - predicted
MSH6 W912R unknown
MSH6 Y1006N loss of function - predicted
MSH6 Y1044* loss of function - predicted
MSH6 Y397fs loss of function - predicted
MSH6 Y397H unknown
MSH6 Y556F no effect - predicted