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 | N330I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR1 N330I lies within Ig-like C2-type domain 3 of the Fgfr1 protein (UniProt.org). N330I has been identified in sequencing studies (PMID: 30385747, PMID: 15625620, PMID: 36428107), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 N330I |
Transcript | NM_023110.3 |
gDNA | chr8:g.38421889T>A |
cDNA | c.989A>T |
Protein | p.N330I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001174063.2 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
XM_017013222 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
NM_001174063.1 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
XM_047421570.1 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
XM_017013222.2 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
XM_017013221 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
NM_001174063 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38421889T>A | c.989A>T | p.N330I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|