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 | FGFR1 |
Variant | V396I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 V396I lies within the transmembrane domain of the Fgfr1 protein (UniProt.org). V396I has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 V396I |
Transcript | NM_023110.3 |
gDNA | chr8:g.38419631C>T |
cDNA | c.1186G>A |
Protein | p.V396I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017013221.2 | chr8:g.38419631C>T | c.1186G>A | p.V396I | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38419631C>T | c.1186G>A | p.V396I | RefSeq | GRCh38/hg38 |
XM_047421570.1 | chr8:g.38419631C>T | c.1186G>A | p.V396I | RefSeq | GRCh38/hg38 |
NM_001174063.2 | chr8:g.38419631C>T | c.1186G>A | p.V396I | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38419631C>T | c.1186G>A | p.V396I | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38419631C>T | c.1186G>A | p.V396I | RefSeq | GRCh38/hg38 |
XM_017013222.2 | chr8:g.38419631C>T | c.1186G>A | p.V396I | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38419631C>T | c.1186G>A | p.V396I | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38419631C>T | c.1186G>A | p.V396I | RefSeq | GRCh38/hg38 |
NM_001174063.1 | chr8:g.38419631C>T | c.1186G>A | p.V396I | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38419631C>T | c.1186G>A | p.V396I | RefSeq | GRCh38/hg38 |
XM_011544451.1 | chr8:g.38417943_38417945delGTGinsATC | c.1186_1188delGTGinsATC | p.V396I | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38419631C>T | c.1186G>A | p.V396I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|