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 | V273M |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR1 V273M lies within the extracellular domain of the Fgfr1 protein (UniProt.org). V273M has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr1 in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Fgfr1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR1 mutant FGFR1 V273M |
Transcript | NM_023110.3 |
gDNA | chr8:g.38424628C>T |
cDNA | c.817G>A |
Protein | p.V273M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017013221 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_011544449 | chr8:g.38421885_38421887delGACinsCAT | c.817_819delGTCinsATG | p.V273M | RefSeq | GRCh38/hg38 |
XM_017013227 | chr8:g.38421885_38421887delGACinsCAT | c.817_819delGTCinsATG | p.V273M | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
NM_001174063 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_006716304.1 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_011544450 | chr8:g.38421885_38421887delGACinsCAT | c.817_819delGTCinsATG | p.V273M | RefSeq | GRCh38/hg38 |
NM_001174063.1 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
NM_001174063.2 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_006716303 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_011544450.3 | chr8:g.38421885_38421887delGTCinsATG | c.817_819delGTCinsATG | p.V273M | RefSeq | GRCh38/hg38 |
XM_011544450.2 | chr8:g.38421885_38421887delGTCinsATG | c.817_819delGTCinsATG | p.V273M | RefSeq | GRCh38/hg38 |
XM_017013221.1 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_017013222 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_011544449.2 | chr8:g.38421885_38421887delGTCinsATG | c.817_819delGTCinsATG | p.V273M | RefSeq | GRCh38/hg38 |
XM_017013227.1 | chr8:g.38421885_38421887delGTCinsATG | c.817_819delGTCinsATG | p.V273M | RefSeq | GRCh38/hg38 |
XM_011544449.1 | chr8:g.38421885_38421887delGTCinsATG | c.817_819delGTCinsATG | p.V273M | RefSeq | GRCh38/hg38 |
XM_017013221.2 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_047421572.1 | chr8:g.38421885_38421887delGTCinsATG | c.817_819delGTCinsATG | p.V273M | RefSeq | GRCh38/hg38 |
NM_023110 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_017013222.2 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_017013227.2 | chr8:g.38421885_38421887delGTCinsATG | c.817_819delGTCinsATG | p.V273M | RefSeq | GRCh38/hg38 |
NM_023110.2 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_006716304 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_047421570.1 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
XM_006716303.3 | chr8:g.38424628C>T | c.817G>A | p.V273M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|