Gene Variant Detail

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Gene RET
Variant V253E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RET V253E lies within the cadherin domain of the Ret protein (UniProt.org). V253E has been identified in sequencing studies (PMID: 28606923), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Feb 2024).
Associated Drug Resistance
Category Variants Paths

RET mutant RET V253E

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Transcript NM_020975.6
gDNA chr10:g.43105084T>A
cDNA c.758T>A
Protein p.V253E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406765.1 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38
NM_020975 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38
NM_020630 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38
NM_001406772.1 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38
NM_001406769.1 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38
NM_001406788.1 chr10:g.43114543_43114544delTCinsAG c.758_759delTCinsAG p.V253E RefSeq GRCh38/hg38
NM_001406789.1 chr10:g.43114543_43114544delTCinsAG c.758_759delTCinsAG p.V253E RefSeq GRCh38/hg38
NM_001406790.1 chr10:g.43114543_43114544delTCinsAG c.758_759delTCinsAG p.V253E RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43105084T>A c.758T>A p.V253E RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References