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Gene | RET |
Variant | T636M |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET T636M lies within the transmembrane domain of the Ret protein (UniProt.org). T636M results in increased Ret autophosphorylation and Erk1/2 and S6 phosphorylation, and increased proliferation, migration, and transformation in cultured cells (PMID: 25725622). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET T636M |
Transcript | NM_020975.6 |
gDNA | chr10:g.43114507C>T |
cDNA | c.1907C>T |
Protein | p.T636M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406743.1 | chr10:g.43114507C>T | c.1907C>T | p.T636M | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43114507C>T | c.1907C>T | p.T636M | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43114507C>T | c.1907C>T | p.T636M | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43114507C>T | c.1907C>T | p.T636M | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43114507C>T | c.1907C>T | p.T636M | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43114507C>T | c.1907C>T | p.T636M | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43114507C>T | c.1907C>T | p.T636M | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43114507C>T | c.1907C>T | p.T636M | RefSeq | GRCh38/hg38 |
NM_001406784.1 | chr10:g.43123766_43123767delCCinsTG | c.1907_1908delCCinsTG | p.T636M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET T636M | gain of function | RET Inhibitor |