Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.I285V

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
3 papers
NM_000142.5
p.I285V
c.853A>G
Surrounding Variants
3 papers
NM_000142.5
p.I285N
c.854T>A
1 paper
NM_000142.5
p.I285M
c.855C>G
4 papers
NM_000142.5
p.H284fs
c.850_851fs
2 papers
NM_000142.5
p.H284Y
c.850C>T
1 paper
NM_000142.5
p.Q286*
c.856C>T
1 paper
NM_000142.5
p.H284fs
c.850_851fs
1 paper
NM_000142.5
p.Q286L
c.857A>T
1 paper
NM_000142.5
p.Q286H
c.858G>C
1 paper
NM_000142.5
p.Q286H
c.858G>T
1 paper
NM_000142.5
p.P283T
c.847C>A
11 papers
NM_000142.5
p.P283S
c.847C>T
1 paper
NM_000142.5
p.W287*
c.860G>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."