RUNX1
CIViC ID: 43 · Entrez: 861
Aliases: AML1,AML1-EVI-1,AMLCR1,CBFA2,EVI-1,PEBP2aB,CBF2alpha,PEBP2alpha,RUNX1
Description
RUNX1 is a transcription factor that forms a complex with the cofactor CBFB. This complex provides stability to the RUNX1 protein which is involved in the generation of hematopoietic stem cells and for their differentiation into myeloid and lymphoid lines. Loss of RUNX1 function has been shown to impair differentiation between myeloid and lymphoid lines often resulting in the development of leukemia.
Cyan = gene · Slate = variant · Green = drug · Click variant to filter table
Variants (7)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 807 | A107P A134P,ALA134PRO,RS74315451 | NM_001754.4:c.400G>C,NP_001745.2:p.Ala134Pro,NC_000021.8:g.36252962C>G,ENST00000344691.4:c.400G>C | missense_variant |
| 806 | D198Y ASP198TYR | NC_000021.8:g.36231792C>A | missense_variant,loss_of_function_variant |
| 802 | K83E LYS83GLU,K110E,RS121912498 | NC_000021.8:g.36259163T>C,NP_001001890.1:p.Lys83Glu,NM_001001890.2:c.247A>G,ENST00000344691.4:c.247A>G | missense_variant |
| 155 | Mutation | loss_of_function_variant,transcript_variant | |
| 804 | R135FSX177 | ||
| 810 | T148HFSX9 C.442_449DEL,THR148HISFSX9,RS587776811 | NM_001754.4:c.442_449delACCGCAGC,NP_001745.2:p.Thr148Hisfs,NC_000021.8:g.36252913_36252920del,ENST00000300305.3:c.442_449delACCGCAGC | frameshift_truncation |
| 803 | Y260* Y260X,TYR260TER,RS121912499 | NM_001001890.2:c.780C>A,NP_001001890.1:p.Tyr260Ter,NC_000021.8:g.36171704G>T,ENST00000344691.4:c.780C>A | stop_gained |