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PMS2
Basic information
- Official gene symbol
-
PMS1 homolog 2, mismatch repair system component
- Conventional gene symbol
-
HNPCC4, MLH4, PMS2CL, PMSL2
- Classification
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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
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7p22.1 (chr7:6013030..6048650, complement)
- Protein length
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862
Chromosome ideogram
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 |
|---|---|---|---|---|---|---|---|---|
| chr7:6043355 | G | A | 4 / 15 | p.R107W | c.319C>T | COSV56223415 | Tier2 | 1 / 38 |
| chr7:6027136 | CA | C | 11 / 15 | p.L420fs | c.1259delT | Tier2 | 1 / 38 |