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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 |