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Gene RET
Variant R972G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RET R972G lies within the protein kinase domain of the Ret protein (UniProt.org). R972G results in decreased GDNF-dependent phosphorylation of Ret and downstream signaling molecules including Shc, PLCgamma, and Erk1/2 compared to wild-type Ret protein, and inhibits the activity of a concurrent activation mutation (C634R) in culture (PMID: 11438491).
Associated Drug Resistance
Category Variants Paths

RET mutant RET inact mut RET R972G

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Transcript NM_020975.6
gDNA chr10:g.43123783A>G
cDNA c.2914A>G
Protein p.R972G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975.5 chr10:g.43123783A>G c.2914A>G p.R972G RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43123783A>G c.2914A>G p.R972G RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43123783A>G c.2914A>G p.R972G RefSeq GRCh38/hg38
NM_020975 chr10:g.43123783A>G c.2914A>G p.R972G RefSeq GRCh38/hg38
NM_020630 chr10:g.43123783A>G c.2914A>G p.R972G RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43123783A>G c.2914A>G p.R972G RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43123783A>G c.2914A>G p.R972G RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43123783A>G c.2914A>G p.R972G RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43123783A>G c.2914A>G p.R972G RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43123783A>G c.2914A>G p.R972G RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
RET R972G loss of function