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Gene | RET |
Variant | C634_A640dup |
Impact List | duplication |
Protein Effect | unknown |
Gene Variant Descriptions | RET C634_A640dup indicates the insertion of 7 duplicate amino acids, cysteine (C)-634 through alanine (A)-640, in the helical domain of the Ret protein (UniProt.org). C634_A640dup has been identified in the scientific literature (PMID: 35616103), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET C634_A640dup |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114500_43114520 |
cDNA | c.1900_1920 |
Protein | p.C634_A640 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406744.1 | chr10:g.43114500_43114520 | c.1900_1920 | p.C634_A640 | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43114500_43114520 | c.1900_1920 | p.C634_A640 | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114500_43114520 | c.1900_1920 | p.C634_A640 | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43114500_43114520 | c.1900_1920 | p.C634_A640 | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43114500_43114520 | c.1900_1920 | p.C634_A640dup | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43114500_43114520 | c.1900_1920 | p.C634_A640 | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114500_43114520 | c.1900_1920 | p.C634_A640dup | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43114500_43114520 | c.1900_1920 | p.C634_A640 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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