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Gene | RET |
Variant | E136K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET E136K lies within the extracellular domain of the Ret protein (UniProt.org). E136K has been identified in sequencing studies (PMID: 32284345), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET E136K |
Transcript | NM_020975.6 |
gDNA | chr10:g.43102410G>A |
cDNA | c.406G>A |
Protein | p.E136K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |