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Mutation:
GDPGP1 R293Q
Summary
Clinical Information
Cancer types: (TCGA MC3)
BLCA
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
[0.0399361]
PTM Site: 299K
Affected site:
Position: 299
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 293W | T[R/W]RGAPPGKTSPSSAL | 6 |
distal
|
| 293Q | T[R/Q]RGAPPGKTSPSSAL | 6 |
distal
|
| 296L | TRGA[P/L]PPGKTSPSSAL | 3 |
distal
|
| 302A | TRGAPPGKTS[P/A]PSSAL | 3 |
distal
|
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