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Gene | FGFR2 |
Variant | S347C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 S347C lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). S347C has been identified in sequencing studies (PMID: 12544231), 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 S347C |
Transcript | NM_000141.5 |
gDNA | chr10:g.121517363G>C |
cDNA | c.1040C>G |
Protein | p.S347C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144919 | chr10:g.121503926T>A | c.1039A>T | p.S347C | RefSeq | GRCh38/hg38 |
NM_001144915.1 | chr10:g.121503922G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121517363G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121517363G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_001144918 | chr10:g.121503838G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_001144918.2 | chr10:g.121503838G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_001144915.2 | chr10:g.121503922G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121517363G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121517363G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121517363G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_023029 | chr10:g.121503922G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_001144919.1 | chr10:g.121503926T>A | c.1039A>T | p.S347C | RefSeq | GRCh38/hg38 |
NM_023029.2 | chr10:g.121503922G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_001144918.1 | chr10:g.121503838G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_001144915 | chr10:g.121503922G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_023029.2 | chr10:g.121503922G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
NM_001144919.2 | chr10:g.121503926T>A | c.1039A>T | p.S347C | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121517363G>C | c.1040C>G | p.S347C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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