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@jax.org
Gene | KIT |
Variant | N822I |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | KIT N822I lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). N822I results in constitutive Kit phosphorylation, is transforming in cell culture, and confers resistance to imatinib (PMID: 21689725). |
Associated Drug Resistance | Y |
Category Variants Paths |
KIT mutant KIT act mut KIT N822I KIT mutant KIT exon17 KIT N822I |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733173A>T |
cDNA | c.2465A>T |
Protein | p.N822I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001385290.1 | chr4:g.54733173A>T | c.2465A>T | p.N822I | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54733173A>T | c.2465A>T | p.N822I | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733173A>T | c.2465A>T | p.N822I | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733173A>T | c.2465A>T | p.N822I | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733173A>T | c.2465A>T | p.N822I | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733173A>T | c.2465A>T | p.N822I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KIT N822I | gain of function | KIT Inhibitor |
KIT V559X KIT N822I |