Variant | Gene | Type | COSMIC ID | DNA Change (Coding Nucleotide) | Exon |
---|---|---|---|---|---|
ABL1 D276G | ABL1 | missense | COSM12602 | 827A>G | 5 |
ABL1 E255K | ABL1 | missense | COSM12573 | 763G>A | 4 |
ABL1 E255V | ABL1 | missense | COSM12574 | 764A>T | 4 |
ABL1 G250E | ABL1 | missense | COSM12577 | 749G>A | 4 |
ABL1 H396P | ABL1 | missense | COSM12564 | 1187A>C | 7 |
ABL1 L387M | ABL1 | missense | COSM131574 | 1159T>A | 7 |
ABL1 M351T | ABL1 | missense | COSM12578 | 1052T>C | 6 |
ABL1 Q252H | ABL1 | missense | COSM12609 | 756G>C | 4 |
ABL1 T315I | ABL1 | missense | COSM12560 | 944C>T | 6 |
ABL1 V299L | ABL1 | missense | Unknown | ||
ABL1 Y253F | ABL1 | missense | COSM12610 | 758A>T | 4 |
ABL1 Y253H | ABL1 | missense | COSM12576 | 757T>C | 4 |
ABL1 F359V | ABL1 | missense | ? | ||
ABL1 M244V | ABL1 | missense | ? | ||
ABL1 E355G | ABL1 | missense | ? | ||
ABL1 copy number gain | ABL1 | CNV | |||
ABL1 copy number loss | ABL1 | CNV | |||
ABL1 any mutation | ABL1 | any |
ABL1 kinase domain mutations in Philadelphia chromosome positive acute lymphoblastic leukemia and chronic myelogenous leukemia are associated with resistance to some types of tryosine kinase inhibitor therapy. The various mutations span several hundred amino acids (M237 thru E507) and vary in their response to later generation tyrosine kinase inhibitors.
This gene is a known cancer gene.
This gene is a known cancer gene.