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Gene | FGFR3 |
Variant | K319del |
Impact List | deletion |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR3 K319del results in the deletion of an amino acid of the Fgfr3 protein at amino acid 319 (UniProt.org). K319del results in similar cell proliferation and viability levels as wild-type Fgfr3 in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 K319del |
Transcript | NM_000142.5 |
gDNA | chr4:g.1803716_1803718delAAG |
cDNA | c.955_957delAAG |
Protein | p.K319delK |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713868 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
XM_006713869 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
XM_006713869.1 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
XM_011513422 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
NM_022965 | chr4:g.1804849_1804851delTGA | c.956_958delTGA | p.M319delM | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
NM_022965.3 | chr4:g.1804849_1804851delTGA | c.956_958delTGA | p.M319delM | RefSeq | GRCh38/hg38 |
XM_006713869.2 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
XM_006713868.2 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
NM_022965.4 | chr4:g.1804849_1804851delTGA | c.956_958delTGA | p.M319delM | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
XM_047449820.1 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
NM_001354810.1 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
NM_001354809.2 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
XM_011513420.1 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
XM_011513422.2 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
XM_011513422.1 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
XM_006713870.2 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
NM_001163213 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
XM_047449821.1 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
XM_006713868.1 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
NM_001354809.1 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
XM_006713870.1 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
XM_006713871 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
XM_006713871.2 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
NM_001354810.2 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
XM_011513420 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
XM_006713871.1 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
XM_006713870 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
XM_047449822.1 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
XM_006713872 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
NM_001163213.1 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
XM_011513420.2 | chr4:g.1803716_1803718delAAG | c.955_957delAAG | p.K319delK | RefSeq | GRCh38/hg38 |
NM_001163213.2 | chr4:g.1802939_1802941delCCG | c.956_958delCCG | p.A319delA | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR3 K319del | no effect - predicted |