Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.L88delFs

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.L88delFs
c.262delC
Surrounding Variants
2 papers
NM_000142.5
p.V87A
c.260T>C
2 papers
NM_000142.5
p.L88fs
c.262_263fs
4 papers
NM_000142.5
p.R86H
c.257G>A
1 paper
NM_000142.5
p.R86P
c.257G>C
1 paper
NM_000142.5
p.R86insFs
c.257_258insTA
1 paper
NM_000142.5
p.R86_L94del0
c.258_281del24
3 papers
NM_000142.5
p.R86C
c.256C>T
1 paper
NM_000142.5
p.V89delFs
c.266delT
1 paper
NM_000142.5
p.E85insFs
c.254_255ins14
1 paper
NM_000142.5
p.V89A
c.266T>C
1 paper
NM_000142.5
p.G90delFs
c.270delG
1 paper
NM_000142.5
p.V89_G90insFs
c.267_268insT
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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."