Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | RET |
Variant | D571N |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET D571N lies within the extracellular domain of the Ret protein (UniProt.org). D571N confers a gain of function to Ret as demonstrated by increased Erk phosphorylation and IL3-independent growth in culture (PMID: 36166639). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET D571N |
Transcript | NM_020975.6 |
gDNA | chr10:g.43112915G>A |
cDNA | c.1711G>A |
Protein | p.D571N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406763.1 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET D571N | gain of function |