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Gene | RET |
Variant | A1105V |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | RET A1105V lies within the cytoplasmic domain of the Ret protein (UniProt.org). A1105V results in GDNF-dependent Mapk activation to a similar level as wild-type Ret in culture (PMID: 22729463), and therefore, is predicted to have no effect on Ret protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET A1105V |
Transcript | NM_020975.6 |
gDNA | chr10:g.43128238C>T |
cDNA | c.3314C>T |
Protein | p.A1105V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406743.1 | chr10:g.43128238C>T | c.3314C>T | p.A1105V | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43128238C>T | c.3314C>T | p.A1105V | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43128238C>T | c.3314C>T | p.A1105V | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43128238C>T | c.3314C>T | p.A1105V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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