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Mutation:
GABRB3 R54H
Summary
Clinical Information
Cancer types: (TCGA MC3)
STAD
Cancer types: (PCAWG)
Stomach-AdenoCA
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 52K
Affected site:
Position: 52
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
58R | FVHGVTVKNRMIR[L/R]LH | 6 |
distal
|
55V | FVHGVTVKNR[M/V]MIRLH | 3 |
distal
|
54L | FVHGVTVKN[R/L]RMIRLH | 2 |
proximal
|
54H | FVHGVTVKN[R/H]RMIRLH | 2 |
proximal
|
54C | FVHGVTVKN[R/C]RMIRLH | 2 |
proximal
|
49L | FVHG[V/L]VTVKNRMIRLH | 3 |
distal
|
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