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NFE2L2
Basic information
- Official gene symbol
-
nuclear factor, erythroid 2 like 2
- Conventional gene symbol
-
HEBP1, IMDDHH, NRF2, Nrf-2
- Classification
-
Oncogene / Tumor suppressor gene
- Official gene ID
- Transcript ID
- Functional classification
-
Response to oxidative stress
- Signaling pathway
-
KEAP1/NRF2
- Chromosomal location
-
2q31.2 (chr2:178095513..178129304, complement)
- Protein length
-
605
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 |
|---|---|---|---|---|---|---|---|---|
| chr2:178098799 | T | A | 2 / 5 | p.E82D | c.246A>T | COSV67960221 | Tier2 | 2 / 98 |
| chr2:178098800 | T | A | 2 / 5 | p.E82V | c.245A>T | COSV67961061 | Tier2 | 1 / 98 |
| chr2:178098803 | C | T | 2 / 5 | p.G81D | c.242G>A | COSV67960014 | Tier2 | 1 / 98 |
| chr2:178098804 | C | T | 2 / 5 | p.G81S | c.241G>A | COSV67960680 | Tier2 | 1 / 98 |
| chr2:178098806 | G | T | 2 / 5 | p.T80K | c.239C>A | COSV67960020 | Tier1 | 1 / 98 |
| chr2:178098810 | C | G | 2 / 5 | p.E79Q | c.235G>C | COSV67960008 | Tier2 | 4 / 98 |
| chr2:178098810 | C | T | 2 / 5 | p.E79K | c.235G>A | COSV67959999 | Tier2 | 2 / 98 |
| chr2:178098816 | C | G | 2 / 5 | p.D77H | c.229G>C | COSV67960000 | Tier2 | 1 / 98 |
| chr2:178098953 | C | G | 2 / 5 | p.G31A | c.92G>C | COSV67959995 | Tier1 | 3 / 98 |
| chr2:178098953 | C | A | 2 / 5 | p.G31V | c.92G>T | COSV67961494 | Tier1 | 1 / 98 |
| chr2:178098954 | C | G | 2 / 5 | p.G31R | c.91G>C | COSV67960750 | Tier1 | 1 / 98 |
| chr2:178098957 | G | A | 2 / 5 | p.L30F | c.88C>T | COSV67960047 | Tier2 | 1 / 98 |
| chr2:178098959 | T | C | 2 / 5 | p.D29G | c.86A>G | COSV67960034 | Tier2 | 3 / 98 |
| chr2:178098960 | C | G | 2 / 5 | p.D29H | c.85G>C | COSV67960002 | Tier2 | 3 / 98 |
| chr2:178098960 | C | A | 2 / 5 | p.D29Y | c.85G>T | COSV67960852 | Tier2 | 2 / 98 |
| chr2:178098973 | C | G | 2 / 5 | p.W24C | c.72G>C | COSV67960212 | Tier2 | 3 / 98 |
| chr2:178098973 | C | A | 2 / 5 | p.W24C | c.72G>T | COSV67961561 | Tier2 | 1 / 98 |
| chr2:178098975 | A | T | 2 / 5 | p.W24R | c.70T>A | COSV67960815 | Tier2 | 1 / 98 |