Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.I254N

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.I254N
c.761T>A
Surrounding Variants
1 paper
NM_000142.5
p.I254V
c.760A>G
1 paper
NM_000142.5
p.L255L
c.763C>T
37 papers
NM_000142.5
p.P253R
c.758C>G
4 papers
NM_000142.5
p.P253L
c.758C>T
2 papers
NM_000142.5
p.P253S
c.757C>T
2 papers
NM_000142.5
p.Q256*
c.766C>T
3 papers
NM_000142.5
p.Q256R
c.767A>G
2 papers
NM_000142.5
p.R252Q
c.755G>A
1 paper
NM_000142.5
p.R252P
c.755G>C
3 papers
NM_000142.5
p.R252W
c.754C>T
2 papers
NM_000142.5
p.Q256H
c.768G>C
2 papers
NM_000142.5
p.Q256H
c.768G>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."