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Gene | RET |
Variant | Q495* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RET Q495* results in a premature truncation of the Ret protein at amino acid 495 of 1114 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), Q495* is predicted to lead to a loss of Ret protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET inact mut RET Q495* |
Transcript | NM_020975.6 |
gDNA | chr10:g.43111426C>T |
cDNA | c.1483C>T |
Protein | p.Q495* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406759.1 | chr10:g.43111426C>T | c.1483C>T | p.Q495* | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43111426C>T | c.1483C>T | p.Q495* | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43111426C>T | c.1483C>T | p.Q495* | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43111426C>T | c.1483C>T | p.Q495* | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43111426C>T | c.1483C>T | p.Q495* | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43111426C>T | c.1483C>T | p.Q495* | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43111426C>T | c.1483C>T | p.Q495* | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43111426C>T | c.1483C>T | p.Q495* | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43111426C>T | c.1483C>T | p.Q495* | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43111426C>T | c.1483C>T | p.Q495* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET Q495* | loss of function - predicted |