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Mutation:
RAB12 N215D
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0083]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 220S
Affected site:
Position: 220
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 215D | LR[N/D]NELSNSILSLQPE | 5 |
distal
|
| 219D | LRNELS[N/D]NSILSLQPE | 1 |
proximal
|
| 221T | LRNELSNS[I/T]ILSLQPE | 1 |
proximal
|
| 223L | LRNELSNSIL[S/L]SLQPE | 3 |
distal
|
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