Commonly mutated in GI tract tumors, PDGFR family genes (mutually exclusive to KIT mutations) are a hallmark of gastrointestinal stromal tumors. Gene fusions involving the PDGFRA kinase domain are highly correlated with eosinophilia, and the WHO classifies myeloid and lymphoid neoplasms with these characteristics as a distinct disorder. Mutations in the 842 region of PDGFRA have been often found to confer resistance to the tyrosine kinase inhibitor, imatinib.
Cyan = gene · Slate = variant · Green = drug · Click variant to filter table
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 716 | Amplification | transcript_amplification | |
| 98 | D842I ASP842ILE | NC_000004.11:g.55152092_55152093delinsAT,ENST00000257290.5:c.2524_2525delinsAT,NP_006197.1:p.Asp842Ile,NM_006206.5:c.2524_2525delGAinsAT | missense_variant |
| 99 | D842V ASP842VAL,RS121908585 | NM_006206.4:c.2525A>T,NP_006197.1:p.Asp842Val,ENST00000257290.5:c.2525A>T,NC_000004.11:g.55152093A>T | missense_variant |
| 100 | D842Y ASP842TYR,RS121913265 | ENST00000257290.5:c.2524G>T,NC_000004.11:g.55152092G>T,NM_006206.5:c.2524G>T,NP_006197.1:p.Asp842Tyr | missense_variant |
| 943 | D842_H845DELDIMH RS121913259 | inframe_deletion | |
| 102 | D842_I843delinsVM | NC_000004.11:g.55152093_55152097delinsTCATG | missense_variant |
| 2623 | Exon 18 Mutation | ||
| 865 | G853D GLY853ASP,RS763576329 | NM_006206.4:c.2558G>A,NP_006197.1:p.Gly853Asp,NC_000004.11:g.55152126G>A,ENST00000257290.5:c.2558G>A | missense_variant |
| 864 | H845Y HIS845TYR,RS1057519814 | NM_006206.4:c.2533C>T,NP_006197.1:p.His845Tyr,NC_000004.11:g.55152101C>T,ENST00000257290.5:c.2533C>T | missense_variant |
| 101 | I843DEL DELI843 | NC_000004.11:g.55152095_55152097del,ENST00000257290.5:c.2527_2529delATC | inframe_deletion |
| 3274 | Mutation | ||
| 2944 | Overexpression | ||
| 862 | P577S PRO577SER,RS1057519811 | NM_006206.4:c.1729C>T,NP_006197.1:p.Pro577Ser,NC_000004.11:g.55141083C>T,ENST00000257290.5:c.1729C>T | missense_variant |
| 863 | R841K ARG841LYS,RS1057519813 | NM_006206.4:c.2522G>A,NP_006197.1:p.Arg841Lys,NC_000004.11:g.55152090G>A,ENST00000257290.5:c.2522G>A | missense_variant |
| 577 | T674I THR674ILE,RS121908587 | NC_000004.11:g.55144547C>T,ENST00000257290.5:c.2021C>T,NM_006206.5:c.2021C>T,NP_006197.1:p.Thr674Ile | missense_variant |
| 247 | V561A VAL561ALA,RS121908586 | ENST00000257290.5:c.1682T>C,NC_000004.11:g.55141036T>C,NM_006206.5:c.1682T>C,NP_006197.1:p.Val561Ala | missense_variant |
| 941 | V561D RS121908586 | NM_006206.5:c.1682T>A,NP_006197.1:p.Val561Asp,NC_000004.11:g.55141036T>A,ENST00000257290.5:c.1682T>A | missense_variant |