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Gene | RET |
Variant | D771N |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RET D771N lies within the protein kinase domain of the Ret protein (UniProt.org). D771N results in decreased phosphorylation of Ret and downstream signaling molecules including Erk1/2 and Stat3, decreased migration, colony formation, and response to GDNF-regulated apoptosis compared to wild-type Ret protein in culture (PMID: 22837065). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET inact mut RET D771N |
Transcript | NM_020975.6 |
gDNA | chr10:g.43118399G>A |
cDNA | c.2311G>A |
Protein | p.D771N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975 | chr10:g.43118399G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43118399G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43118399G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43118399G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_001355216.2 | chr10:g.43126608G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43118399G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43118399G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43118399G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_001406769.1 | chr10:g.43120180G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_001355216.1 | chr10:g.43126608G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43118399G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_001406783.1 | chr10:g.43128261G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43118399G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_001406772.1 | chr10:g.43120180G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43118399G>A | c.2311G>A | p.D771N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET D771N | loss of function |