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Gene RET
Variant S649L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RET S649L lies within the transmembrane domain of the Ret protein (UniProt.org). The functional effect of S649L is conflicting as it results in increased kinase activity and cell proliferation and moderate transforming activity in culture (PMID: 18322301), but in another study does not result in transforming activity in culture, leads to Ret pathway signaling similar to wild-type Ret in reporter assays (PMID: 21551259), and results in reduced ability to self-associate in culture (PMID: 23067224).
Associated Drug Resistance
Category Variants Paths

RET mutant RET S649L

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Transcript NM_020975.6
gDNA chr10:g.43114546C>T
cDNA c.1946C>T
Protein p.S649L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406744.1 chr10:g.43114546C>T c.1946C>T p.S649L RefSeq GRCh38/hg38
NM_001406775.1 chr10:g.43120145C>T c.1946C>T p.S649L RefSeq GRCh38/hg38
NM_001406776.1 chr10:g.43120145C>T c.1946C>T p.S649L RefSeq GRCh38/hg38
NM_020975 chr10:g.43114546C>T c.1946C>T p.S649L RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114546C>T c.1946C>T p.S649L RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114546C>T c.1946C>T p.S649L RefSeq GRCh38/hg38
NM_001406777.1 chr10:g.43120145C>T c.1946C>T p.S649L RefSeq GRCh38/hg38
NM_001406778.1 chr10:g.43120145C>T c.1946C>T p.S649L RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114546C>T c.1946C>T p.S649L RefSeq GRCh38/hg38
NM_001406771.1 chr10:g.43118471_43118472delAGinsCT c.1945_1946delAGinsCT p.S649L RefSeq GRCh38/hg38
NM_020630 chr10:g.43114546C>T c.1946C>T p.S649L RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114546C>T c.1946C>T p.S649L RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114546C>T c.1946C>T p.S649L RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114546C>T c.1946C>T p.S649L RefSeq GRCh38/hg38
NM_001406773.1 chr10:g.43118471_43118472delAGinsCT c.1945_1946delAGinsCT p.S649L RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114546C>T c.1946C>T p.S649L RefSeq GRCh38/hg38

Filtering

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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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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