Identical gene variants reported in other studies
| Gene . | Variant . | Functional validation . | References . |
|---|---|---|---|
| JAK3 | A573V | Yes | 40, 41 |
| STAT3 | Y640F | Yes | 42 |
| STAT5B | Y665F | Yes | 43, 44 |
| STAT5B | N642H | Yes | 43, 45, 46 |
| STAT5B | E150Q | Yes | 46 |
| PLCG1 | S345F | Yes | 3-6, 8, 9, 13, 36, 37 |
| PLCG1 | S520F | Yes | 4, 6, 8 |
| PLCG1 | D342N | Yes | 3, 37, 38 |
| PLCG1 | R48W | Not done | 3, 4, 7, 13 |
| PLCG1 | E1163K | Not done | 3, 4, 7, 8, 13 |
| PLCG1 | D1165H | Not done | 4, 13 |
| POT1 | R117C | Yes | 35 |
| TP53 | S127F | Yes | >10 papers |
| TP53 | H20R | Not done | 5 |
| TP53 | R37X | Not done | 5 |
| ATM | E2423K | Yes | 39 |
| CSMD1 | A408V | Not done | 4 |
| ENPEP | V97L | Not done | 7 |
| LRP1B | R790Q | Not done | 4 |
| Gene . | Variant . | Functional validation . | References . |
|---|---|---|---|
| JAK3 | A573V | Yes | 40, 41 |
| STAT3 | Y640F | Yes | 42 |
| STAT5B | Y665F | Yes | 43, 44 |
| STAT5B | N642H | Yes | 43, 45, 46 |
| STAT5B | E150Q | Yes | 46 |
| PLCG1 | S345F | Yes | 3-6, 8, 9, 13, 36, 37 |
| PLCG1 | S520F | Yes | 4, 6, 8 |
| PLCG1 | D342N | Yes | 3, 37, 38 |
| PLCG1 | R48W | Not done | 3, 4, 7, 13 |
| PLCG1 | E1163K | Not done | 3, 4, 7, 8, 13 |
| PLCG1 | D1165H | Not done | 4, 13 |
| POT1 | R117C | Yes | 35 |
| TP53 | S127F | Yes | >10 papers |
| TP53 | H20R | Not done | 5 |
| TP53 | R37X | Not done | 5 |
| ATM | E2423K | Yes | 39 |
| CSMD1 | A408V | Not done | 4 |
| ENPEP | V97L | Not done | 7 |
| LRP1B | R790Q | Not done | 4 |
Several specific variants have been reported previously in CTCL and other malignancies. Functionally validated specific variants are indicated.