Gene Variant Detail

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Gene RET
Variant C630X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RET C630X indicates any Ret missense mutation that results in replacement of the cysteine (C) at amino acid 630 by a different amino acid.
Associated Drug Resistance
Category Variants Paths

RET mutant RET C630X

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Transcript NM_020975.6
gDNA chr10:g.43114488_43114490
cDNA c.1888_1890
Protein p.C630
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406760.1 chr10:g.43114488_43114490 c.1888_1890 p.C630 RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114488_43114490 c.1888_1890 p.C630 RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114488_43114490 c.1888_1890 p.C630 RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114488_43114490 c.1888_1890 p.C630 RefSeq GRCh38/hg38
NM_020630 chr10:g.43114488_43114490 c.1888_1890 p.C630 RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114488_43114490 c.1888_1890 p.C630 RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114488_43114490 c.1888_1890 p.C630 RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114488_43114490 c.1888_1890 p.C630 RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114488_43114490 c.1888_1890 p.C630 RefSeq GRCh38/hg38
NM_020975 chr10:g.43114488_43114490 c.1888_1890 p.C630 RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET C630X medullary thyroid carcinoma not applicable N/A Guideline Risk Factor Germline RET C630X mutations result in multiple endocrine neoplasia, type 2A (MEN 2A), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org). detail...