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MSH6

Basic information

Official gene symbol
mutS homolog 6
Conventional gene symbol
GTBP, GTMBP, HNPCC5, HSAP, p160
Classification
Tumor suppressor gene
Official gene ID
2956(Refseq)
2956 (KEGG)
Transcript ID
NM_000179
Functional classification
Genome maintenance
Signaling pathway
Core DNA Damage Response
Chromosomal location
2p16.3 (chr2:48010373..48033999)
Protein length
1,360

Chromosome ideogram

Frequency of somatic alterationsTumor type

Base substitutions, insertions, and deletions

Copy number alterations

Distribution of tumor mutation burdenTMB

List of driver somatic mutations

Genomic Coordinates (GRCh37/hg19) Reference Variant Exon Amino Acid change Coding DNA change COSMIC (v92) Classification No. of Samples
chr2:48025798 G T 4 / 10 p.E226* c.676G>T COSV52283418 Tier2 1 / 93
chr2:48025840 C T 4 / 10 p.R240* c.718C>T COSV52275939 Tier2 1 / 93
chr2:48025877 C G 4 / 10 p.S252* c.755C>G COSV99315000 Tier2 1 / 93
chr2:48026114 C G 4 / 10 p.S331* c.992C>G   Tier2 1 / 93
chr2:48026204 G A 4 / 10 p.R361H c.1082G>A COSV52277030 Tier2 2 / 93
chr2:48026217 G A 4 / 10 p.W365* c.1095G>A   Tier2 2 / 93
chr2:48026756 AAG A 4 / 10 p.E546fs c.1637_1638delAG   Tier2 1 / 93
chr2:48027493 C CGTCT 4 / 10 p.D793fs c.2372_2375dupGTCT   Tier2 1 / 93
chr2:48027541 G T 4 / 10 p.E807* c.2419G>T   Tier2 1 / 93
chr2:48027661 G T 4 / 10 p.E847* c.2539G>T COSV52290329 Tier2 1 / 93
chr2:48027751 G T 4 / 10 p.E877* c.2629G>T COSV52286026 Tier2 1 / 93
chr2:48027844 G T 4 / 10 p.E908* c.2722G>T COSV52277227 Tier2 1 / 93
chr2:48027853 C T 4 / 10 p.R911* c.2731C>T COSV52274832 Tier2 1 / 93
chr2:48027900 TA T 4 / 10 p.I927fs c.2779delA   Tier2 1 / 93
chr2:48027949 GACATAAGAGAA G 4 / 10 p.D943fs c.2829_2839delCATAAGAGAAA   Tier2 1 / 93
chr2:48027999 C CAACA 4 / 10 p.R961fs c.2878_2881dupAACA   Tier2 1 / 93
chr2:48028049 G A 4 / 10 p.R976H c.2927G>A COSV52275309 Tier2 1 / 93
chr2:48028142 G A 4 / 10 p.W1007* c.3020G>A   Tier2 1 / 93
chr2:48028219 AT A 4 / 10 p.M1033fs c.3098delT   Tier2 1 / 93
chr2:48028225 C T 4 / 10 p.R1035* c.3103C>T COSV52277143 Tier2 1 / 93
chr2:48030571 G A 5 / 10 p.C1062Y c.3185G>A   Tier2 1 / 93
chr2:48030820 G GA 5 / 10 p.Q1146fs c.3435dupA   Tier2 1 / 93
chr2:48033396 G T 8 / 10 p.E1234* c.3700G>T COSV52275668 Tier2 2 / 93
chr2:48033589 AG A 9 / 10 p.A1268fs c.3802delG   Tier2 1 / 93
chr2:48033753 G T 9 / 10 p.E1322* c.3964G>T COSV52274101 Tier2 2 / 93