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Gene | RET |
Variant | S891X |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET S891X indicates any Ret missense mutation that results in replacement of the serine (S) at amino acid 891 by a different amino acid. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET S891X |
Transcript | NM_020975.5 |
gDNA | chr10:g.43120144_43120146 |
cDNA | c.2671_2673 |
Protein | p.S891 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975.5 | chr10:g.43120144_43120146 | c.2671_2673 | p.S891 | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43120144_43120146 | c.2671_2673 | p.S891 | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43120144_43120146 | c.2671_2673 | p.S891 | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43120144_43120146 | c.2671_2673 | p.S891 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RET S891X | thyroid gland medullary carcinoma | not applicable | N/A | Guideline | Risk Factor | Germline RET S891X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with increased risk of developing thyroid medullary carcinoma (NCCN.org). | detail... |