Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.R603Q

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
2 papers
NM_000142.5
p.R603Q
c.1808G>A
Surrounding Variants
1 paper
NM_000142.5
p.R603W
c.1807C>T
1 paper
NM_000142.5
p.A602V
c.1805C>T
1 paper
NM_000142.5
p.A602S
c.1804G>T
1 paper
NM_000142.5
p.M605I
c.1815G>A
1 paper
NM_000142.5
p.M605I
c.1815G>C
1 paper
NM_000142.5
p.M605I
c.1815G>T
2 papers
NM_000142.5
p.E606Q
c.1816G>C
1 paper
NM_000142.5
p.Q600R
c.1799A>G
1 paper
NM_000142.5
p.E606G
c.1817A>G
1 paper
NM_000142.5
p.Q600_V601del2
c.1798_1802del6
1 paper
NM_000142.5
p.Y599_Q600delins
c.1796_1799delinsG
1 paper
NM_000142.5
p.Y607*
c.1821C>A
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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."