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Gene RET
Variant E762Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RET E762Q lies within the protein kinase domain of the Ret protein (UniProt.org). E762Q results in decreased GDNF-dependent phosphorylation of Ret and downstream signaling molecules including Shc, PLCgamma, and Erk1/2 compared to wild-type Ret protein, and inhibits the activity of a concurrent activation mutation (C634R) in culture (PMID: 11438491).
Associated Drug Resistance
Category Variants Paths

RET mutant RET inact mut RET E762Q

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Transcript NM_020975.6
gDNA chr10:g.43116731G>C
cDNA c.2284G>C
Protein p.E762Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975.6 chr10:g.43116731G>C c.2284G>C p.E762Q RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43116731G>C c.2284G>C p.E762Q RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43116731G>C c.2284G>C p.E762Q RefSeq GRCh38/hg38
NM_020975 chr10:g.43116731G>C c.2284G>C p.E762Q RefSeq GRCh38/hg38
NM_020630 chr10:g.43116731G>C c.2284G>C p.E762Q RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43116731G>C c.2284G>C p.E762Q RefSeq GRCh38/hg38
NM_001406764.1 chr10:g.43119551G>C c.2284G>C p.E762Q RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43116731G>C c.2284G>C p.E762Q RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43116731G>C c.2284G>C p.E762Q RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43116731G>C c.2284G>C p.E762Q RefSeq GRCh38/hg38
NM_001406761.1 chr10:g.43119551G>C c.2284G>C p.E762Q RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43116731G>C c.2284G>C p.E762Q RefSeq GRCh38/hg38
NM_001406762.1 chr10:g.43119551G>C c.2284G>C p.E762Q RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
RET E762Q loss of function