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Gene | RET |
Variant | C634R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C634R lies within the extracellular domain of the Ret protein (UniProt.org). C634R results in autophosphorylation of Ret, and is transforming in cultured cells (PMID: 9242375, PMID: 10679286). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C634R RET mutant RET C634X RET C634R |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114500T>C |
cDNA | c.1900T>C |
Protein | p.C634R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406759.1 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_001406786.1 | chr10:g.43123795T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_001406783.1 | chr10:g.43123795T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43114500T>C | c.1900T>C | p.C634R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET C634R | gain of function | RET Inhibitor |
RET C634R RET V804G | ||
RET C634R RET V804M | ||
RET C634R RET Y806C | ||
RET C634R RET Y806E | ||
RET C634R RET Y806F |