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 | FGFR3 |
Variant | N540T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 N540T lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). N540T has been identified in sequencing studies (PMID: 10425034), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 N540T |
Transcript | NM_000142.5 |
gDNA | chr4:g.1805643A>C |
cDNA | c.1619A>C |
Protein | p.N540T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713870.1 | chr4:g.1805634A>C | c.1619A>C | p.N540T | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1805643A>C | c.1619A>C | p.N540T | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1805643A>C | c.1619A>C | p.N540T | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1805643A>C | c.1619A>C | p.N540T | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1805643A>C | c.1619A>C | p.N540T | RefSeq | GRCh38/hg38 |
XM_047449821.1 | chr4:g.1805634A>C | c.1619A>C | p.N540T | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1805643A>C | c.1619A>C | p.N540T | RefSeq | GRCh38/hg38 |
XM_006713870 | chr4:g.1805634A>C | c.1619A>C | p.N540T | RefSeq | GRCh38/hg38 |
XM_006713870.2 | chr4:g.1805634A>C | c.1619A>C | p.N540T | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1805643A>C | c.1619A>C | p.N540T | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1805643A>C | c.1619A>C | p.N540T | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1805643A>C | c.1619A>C | p.N540T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|