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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 4292 |
Name | MLH1 |
Synonymous | COCA2|FCC2|HNPCC|HNPCC2|hMLH1;mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli);MLH1;mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) |
Definition | DNA mismatch repair protein Mlh1|mutL protein homolog 1 |
Position | 3p21.3 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.1959G>T; 3:37065074-37065074 |
large_intestine | adenocarcinoma; carcinoma |
Substitution - coding silent; c.1788C>T; 3:37064070-37064070 |
endometrium | carcinoma |
Substitution - coding silent; c.30G>C; |
n; prostate | carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - In frame; c.1852_1854delAAG; 3:37064134-37064136 |
large_intestine; colon | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1497delG; 3:37045366-37045366 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1513delA; 3:37045382-37045382 |
ovary | carcinoma |
Deletion - Frameshift; c.769delA; 3:37031018-37031018 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1513delA; 3:37045382-37045382 |
ovary | carcinoma |
Deletion - Frameshift; c.1988_1989delAG; 3:37065103-37065104 |
large_intestine; colon | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.872delT; 3:37034082-37034082 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.2033_2046del14; 3:37065442-37065455 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1731G>A; 3:37058826-37058826 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.129delA; 3:37013126-37013126 |
large_intestine | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.738_750del13; 3:37030987-37030999 |
large_intestine; colon | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.1731G>A; 3:37058826-37058826 |
large_intestine; right | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.145_148delGTGA; 3:37013142-37013145 |
endometrium | carcinoma |
Other Mutation | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Whole gene deletion; c.1_2271del2271; 3:37021089-37159477 |
ovary | adenocarcinoma; carcinoma |
Complex - frameshift; c.389_390>T; 3:37023494-37023495 |
large_intestine; colon | carcinoma |