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Gene | FGFR2 |
Variant | E116K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 E116K lies within Ig-like C2-type domain 1 of the Fgfr2 protein (UniProt.org). E116K has been identified in sequencing studies (PMID: 25035393), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 E116K |
Transcript | NM_000141.5 |
gDNA | chr10:g.121565468C>T |
cDNA | c.346G>A |
Protein | p.E116K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_022970.3 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_001144914 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_001144917 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121565468C>T | c.346G>A | p.E116K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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