Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3

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
1–12 of 2030 variants
688 papers
NM_000142.5
p.G380R
c.1138G>A
633 papers
NM_000142.5
p.G380R
c.1138G>C
606 papers
NM_000142.5
p.S249C
c.746C>G
594 papers
NM_000142.5
p.R248C
c.742C>T
404 papers
NM_000142.5
p.K650E
c.1948A>G
353 papers
NM_000142.5
p.Y373C
c.1118A>G
342 papers
NM_000142.5
p.P250R
c.749C>G
254 papers
NM_000142.5
p.N540K
c.1620C>A
254 papers
NM_000142.5
p.N540K
c.1620C>G
203 papers
NM_000142.5
p.A391E
c.1172C>A
193 papers
NM_000142.5
p.G370C
c.1108G>T
189 papers
NM_000142.5
p.K650M
c.1949A>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."