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Summary

Isoform:
Position:
325
Ref:
G
Mutation:
V
PTM impact:
proximal
PTM affected:
4
Kinases:
KAT2B

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Li-Fraumeni syndrome, COLORECTAL CANCER, Non-Hodgkin lymphoma, Hereditary cancer-predisposing syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 319K

PTM Site: 320K

PTM Site: 321K

Affected site:

Position: 321
Residue: K
Type: acetylation, ubiquitination

Impact:

distal

PTM Site: 327Y

Affected site:

Position: 327
Residue: Y
Type: phosphorylation

Impact:

proximal

External references

dbSNP:

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