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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
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|---|---|
Gene ID | 5048 |
Name | PAFAH1B1 |
Synonymous | LIS1|LIS2|MDCR|MDS|PAFAH;platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa);PAFAH1B1;platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) |
Definition | LIS-1|PAF acetylhydrolase 45 kDa subunit|PAF-AH 45 kDa subunit|PAF-AH alpha|PAFAH alpha|lissencephaly 1 protein|lissencephaly-1 protein|platelet-activating factor acetylhydrolase IB subunit alpha|platelet-activating factor acetylhydrolase, isoform Ib, alp |
Position | 17p13.3 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.849C>T; |
y; skin; arm | malignant_melanoma |
Indel | | Top | |
There is no record for PAFAH1B1 |
Other Mutation | | Top | |
There is no record for PAFAH1B1 |