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MLH1

Basic information

Official gene symbol
mutL homolog 1
Conventional gene symbol
COCA2, FCC2, HNPCC2, hMLH1
Classification
Oncogene / Tumor suppressor gene
Official gene ID
4292(Refseq)
4292 (KEGG)
Transcript ID
NM_000249
Functional classification
Genome maintenance
Signaling pathway
Core DNA Damage Response
Chromosomal location
3p22.2 (chr3:37035039..37092144)
Protein length
756

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
chr3:37035114 C T 1 / 19 p.Q26* c.76C>T   Tier2 1 / 71
chr3:37042536 C T 3 / 19 p.R100* c.298C>T COSV51614696 Tier2 1 / 71
chr3:37045896 T A 4 / 19 p.L104* c.311T>A   Tier2 1 / 71
chr3:37045935 C T 4 / 19 p.T117M c.350C>T COSV51617070 Tier2 2 / 71
chr3:37055933 G T 9 / 19 p.E230* c.688G>T   Tier2 1 / 71
chr3:37055939 G T 9 / 19 p.G232* c.694G>T COSV51625666 Tier2 1 / 71
chr3:37056002 GT G 9 / 19 p.V253fs c.758delT   Tier2 1 / 71
chr3:37058999 C T 10 / 19 p.R265C c.793C>T COSV51616044 Tier2 1 / 71
chr3:37059085 C G 10 / 19 p.Y293* c.879C>G   Tier2 1 / 71
chr3:37067368 C T 12 / 19 p.Q427* c.1279C>T COSV51625983 Tier2 1 / 71
chr3:37070414 G T 13 / 19 p.G517* c.1549G>T   Tier2 1 / 71
chr3:37070420 G T 13 / 19 p.E519* c.1555G>T   Tier2 1 / 71
chr3:37083821 C A 15 / 19 p.S577* c.1730C>A   Tier2 1 / 71
chr3:37089047 T G 16 / 19 p.L590* c.1769T>G   Tier2 1 / 71
chr3:37089122 TGAA T 16 / 19 p.K618del c.1852_1854delAAG COSV51615899 Tier2 1 / 71
chr3:37089163 G T 16 / 19 p.E629* c.1885G>T COSV99212951 Tier2 1 / 71
chr3:37090074 AT A 17 / 19 p.I655fs c.1964delT   Tier2 1 / 71
chr3:37090402 G A 18 / 19 p.W666* c.1997G>A   Tier2 1 / 71
chr3:37090446 G A 18 / 19 p.A681T c.2041G>A   Tier2 1 / 71
chr3:37092014 G A 19 / 19 p.W714* c.2141G>A COSV51622963 Tier2 2 / 71