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Mutation:
ARFGEF2 E209K
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Heterotopia, periventricular, autosomal recessive
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.41932899999999995]
PTM Site: 214S
Affected site:
Position: 214
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 209K | EL[E/K]EKPIQSKPQSPVI | 5 |
distal
|
| 212L | ELEKP[I/L]IQSKPQSPVI | 2 |
proximal
|
| 219H | ELEKPIQSKPQS[P/H]PVI | 5 |
distal
|
External references
dbSNP:
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