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 | KIT |
Variant | A755T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT A755T lies within the protein kinase domain of the Kit protein (UniProt.org). A755T has been identified in the scientific literature (PMID: 33579785, PMID: 27023146), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT A755T |
Transcript | NM_000222.3 |
gDNA | chr4:g.54731900G>A |
cDNA | c.2263G>A |
Protein | p.A755T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001385290.1 | chr4:g.54731900G>A | c.2263G>A | p.A755T | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54731900G>A | c.2263G>A | p.A755T | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54731900G>A | c.2263G>A | p.A755T | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54731900G>A | c.2263G>A | p.A755T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|