Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.R252Q

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.R252Q
c.755G>A
Surrounding Variants
1 paper
NM_000142.5
p.R252P
c.755G>C
3 papers
NM_000142.5
p.R252W
c.754C>T
1 paper
NM_000142.5
p.H251Q
c.753C>A
1 paper
NM_000142.5
p.H251Q
c.753C>G
5 papers
NM_000142.5
p.H251H
c.753C>T
2 papers
NM_000142.5
p.P253S
c.757C>T
1 paper
NM_000142.5
p.H251R
c.752A>G
1 paper
NM_000142.5
p.H251L
c.752A>T
37 papers
NM_000142.5
p.P253R
c.758C>G
4 papers
NM_000142.5
p.P253L
c.758C>T
1 paper
NM_000142.5
p.H251insFs
c.752_753insA
2 papers
NM_000142.5
p.H251Y
c.751C>T
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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."