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RAD50
Basic information
- Official gene symbol
-
RAD50 double strand break repair protein
- Conventional gene symbol
-
NBSLD, RAD502, hRad50
- Classification
-
Tumor suppressor gene
- Official gene ID
- Transcript ID
- Functional classification
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Genome maintenance
- Signaling pathway
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Core DNA Damage Response
- Chromosomal location
-
5q31.1 (chr5:131893017..131978056)
- Protein length
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1,312
Chromosome ideogram
Pathway map
Frequency of somatic alterationsTumor type
Base substitutions, insertions, and deletions
Copy number alterations
Distribution of tumor mutation burdenTMB
List of driver somatic mutations
| Genomic Coordinates (GRCh37/hg19) | Reference | Variant | Exon | Amino Acid change | Coding DNA change | COSMIC (v92) | Classification | No. of Samples |
|---|---|---|---|---|---|---|---|---|
| chr5:131895033 | G | T | 2 / 25 | p.G63* | c.187G>T | Tier2 | 1 / 63 | |
| chr5:131915055 | C | T | 4 / 25 | p.R138* | c.412C>T | COSV54752938 | Tier2 | 1 / 63 |
| chr5:131915615 | G | T | 5 / 25 | p.E205* | c.613G>T | COSV54750970 | Tier2 | 1 / 63 |
| chr5:131953826 | C | T | 21 / 25 | p.R1077* | c.3229C>T | COSV54748919(SNP) | Tier2 | 1 / 63 |
| chr5:131953874 | C | T | 21 / 25 | p.R1093* | c.3277C>T | COSV54748338 | Tier2 | 1 / 63 |
| chr5:131972871 | C | T | 22 / 25 | p.R1152* | c.3454C>T | Tier2 | 1 / 63 |