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Gene | RET |
Variant | P1047S |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | RET P1047S lies within the cytoplasmic domain of the Ret protein (UniProt.org). P1047S results in proliferation, autophosphorylation, and Erk1/2 phosphorylation similar to wild-type Ret in culture (PMID: 29665843), and therefore, is predicted to have no effect on Ret protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET P1047S |
Transcript | NM_020975.6 |
gDNA | chr10:g.43126674C>T |
cDNA | c.3139C>T |
Protein | p.P1047S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630.5 | chr10:g.43126674C>T | c.3139C>T | p.P1047S | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43126674C>T | c.3139C>T | p.P1047S | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43128123C>T | c.3139C>T | p.P1047S | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43126674C>T | c.3139C>T | p.P1047S | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43126674C>T | c.3139C>T | p.P1047S | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43126674C>T | c.3139C>T | p.P1047S | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43128123C>T | c.3139C>T | p.P1047S | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43126674C>T | c.3139C>T | p.P1047S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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