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Gene | RET |
Variant | V292M |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET V292M lies within the cadherin-like domain 3 of the Ret protein (PMID: 20039896). V292M results in Ret autophosphorylation, increased phosphorylation of Mapk, Mek, and Shc, increased cell proliferation, but has low transforming activity in culture (PMID: 20039896). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET V292M |
Transcript | NM_020975.6 |
gDNA | chr10:g.43106382G>A |
cDNA | c.874G>A |
Protein | p.V292M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406780.1 | chr10:g.43113567_43113569delGTTinsATG | c.874_876delGTTinsATG | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406774.1 | chr10:g.43111342G>A | c.874G>A | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43106382G>A | c.874G>A | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406766.1 | chr10:g.43109129_43109131delGTCinsATG | c.874_876delGTCinsATG | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406773.1 | chr10:g.43111255_43111257delGTCinsATG | c.874_876delGTCinsATG | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43106382G>A | c.874G>A | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43106382G>A | c.874G>A | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43106382G>A | c.874G>A | p.V292M | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43106382G>A | c.874G>A | p.V292M | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43106382G>A | c.874G>A | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406771.1 | chr10:g.43111255_43111257delGTCinsATG | c.874_876delGTCinsATG | p.V292M | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43106382G>A | c.874G>A | p.V292M | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43106382G>A | c.874G>A | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406779.1 | chr10:g.43113567_43113569delGTTinsATG | c.874_876delGTTinsATG | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406767.1 | chr10:g.43109129_43109131delGTCinsATG | c.874_876delGTCinsATG | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406787.1 | chr10:g.43113567_43113569delGTTinsATG | c.874_876delGTTinsATG | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43106382G>A | c.874G>A | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406781.1 | chr10:g.43113567_43113569delGTTinsATG | c.874_876delGTTinsATG | p.V292M | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43106382G>A | c.874G>A | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43106382G>A | c.874G>A | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406782.1 | chr10:g.43113567_43113569delGTTinsATG | c.874_876delGTTinsATG | p.V292M | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43106382G>A | c.874G>A | p.V292M | RefSeq | GRCh38/hg38 |
NM_001406770.1 | chr10:g.43109129_43109131delGTCinsATG | c.874_876delGTCinsATG | p.V292M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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