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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 2131 |
Name | EXT1 |
Synonymous | EXT|LGCR|LGS|TRPS2|TTV;exostosin 1;EXT1;exostosin 1 |
Definition | Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|Langer-Giedion syndrome chromosome region|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase|exostoses (multiple) 1|exostosin-1|glucuronosyl-N-acetylgluc |
Position | 8q24.11 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.1065C>T; |
y; stomach | adenocarcinoma; carcinoma |
Substitution - coding silent; c.414C>T; 8:119192053-119192053 |
y; lung | non_small_cell_carcinoma; carcinoma |
Substitution - coding silent; c.1704G>A; 8:118894310-118894310 |
y; ovary | serous_carcinoma; carcinoma |
Substitution - coding silent; c.453G>A; 8:119192014-119192014 |
y; ovary | serous_carcinoma; carcinoma |
Indel | | Top | |
There is no record for EXT1 |
Other Mutation | | Top | |
There is no record for EXT1 |