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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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|---|---|
Gene ID | 5310 |
Name | PKD1 |
Synonymous | PBP|Pc-1|TRPP1;polycystic kidney disease 1 (autosomal dominant);PKD1;polycystic kidney disease 1 (autosomal dominant) |
Definition | autosomal dominant polycystic kidney disease 1 protein|polycystic kidney disease-associated protein|polycystin 1|polycystin-1|transient receptor potential cation channel, subfamily P, member 1 |
Position | 16p13.3 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.10932C>T; |
y; upper_aerodigestive_tract; mouth | squamous_cell_carcinoma; carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.5579delG; |
y; upper_aerodigestive_tract; mouth | squamous_cell_carcinoma; carcinoma |
Other Mutation | | Top | |
There is no record for PKD1 |