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Summary

Isoform:
Position:
304
Ref:
T
Mutation:
A
PTM impact:
direct
PTM affected:
2
Kinases:
LRRK2, EP300

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 304T

Affected site:

Position: 304
Residue: T
Type: phosphorylation

Impact:

direct

PTM Site: 305K

Affected site:

Position: 305
Residue: K
Type: ubiquitination, acetylation

Impact:

proximal

External references

dbSNP:

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