Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.G258R

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.G258R
c.772G>A
Surrounding Variants
1 paper
NM_000142.5
p.G258R
c.772G>C
1 paper
NM_000142.5
p.G258W
c.772G>T
1 paper
NM_000142.5
p.G258V
c.773G>T
6 papers
NM_000142.5
p.A257V
c.770C>T
1 paper
NM_000142.5
p.L259L
c.775C>T
1 paper
NM_000142.5
p.A257T
c.769G>A
1 paper
NM_000142.5
p.A257_G258insTA
c.769_773ins6
2 papers
NM_000142.5
p.A257S
c.769G>T
2 papers
NM_000142.5
p.Q256H
c.768G>C
2 papers
NM_000142.5
p.Q256H
c.768G>T
2 papers
NM_000142.5
p.L259P
c.776T>C
3 papers
NM_000142.5
p.Q256R
c.767A>G
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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."