Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.L189insFs

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.L189insFs
c.566dupT
Surrounding Variants
1 paper
NM_000142.5
p.L189L
c.567G>C
1 paper
NM_000142.5
p.K190R
c.569A>G
1 paper
NM_000142.5
p.K190M
c.569A>T
1 paper
NM_000142.5
p.S187S
c.561C>G
2 papers
NM_000142.5
p.S187Y
c.560C>A
1 paper
NM_000142.5
p.S187insFs
c.560dupC
1 paper
NM_000142.5
p.N191T
c.572A>C
1 paper
NM_000142.5
p.I186N
c.557T>A
1 paper
NM_000142.5
p.I186V
c.556A>G
2 papers
NM_000142.5
p.G192S
c.574G>A
1 paper
NM_000142.5
p.G192C
c.574G>T
1 paper
NM_000142.5
p.S185S
c.555C>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."