Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.P304L

FGFR3

3,257 papers

RefSeq Summary

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members ...

Pfam Domains

I-setaa 159–245UCSCImmunoglobulin I-set domain
Ig_3aa 252–343UCSCImmunoglobulin domain
FGFR3_TMaa 372–397UCSCFibroblast growth factor receptor 3 transmembrane domain
PK_Tyr_Ser-Thraa 472–748UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 3

HGNC Previous Symbol

ACH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000142.5
p.P304L
c.911C>T
Surrounding Variants
1 paper
NM_000142.5
p.P304H
c.911C>A
2 papers
NM_000142.5
p.P304P
c.912C>G
2 papers
NM_000142.5
p.P304S
c.910C>T
1 paper
NM_000142.5
p.P304del1
c.910_911delCCC
1 paper
NM_000142.5
p.Y305H
c.913T>C
1 paper
NM_000142.5
p.Y305C
c.914A>G
1 paper
NM_000142.5
p.T303_P304insCC
c.907_911ins6
1 paper
NM_000142.5
p.V306_V308ins1
c.916_924dup9
8 papers
NM_000142.5
p.V306I
c.916G>A
3 papers
NM_000142.5
p.G302D
c.905G>A
2 papers
NM_000142.5
p.G302fs
c.904_905fs
1 paper
NM_000142.5
p.T307A
c.919A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."