Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.Q92_R93delins

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.Q92_R93delins
c.276_277delinsAT
Surrounding Variants
1 paper
NM_000142.5
p.Q92Q
c.276G>A
5 papers
NM_000142.5
p.R93W
c.277C>T
1 paper
NM_000142.5
p.Q92_R93insT
c.274_278ins3
2 papers
NM_000142.5
p.Q92*
c.274C>T
2 papers
NM_000142.5
p.Q92fs
c.274_275fs
4 papers
NM_000142.5
p.R93Q
c.278G>A
1 paper
NM_000142.5
p.R93P
c.278G>C
2 papers
NM_000142.5
p.P91L
c.272C>T
1 paper
NM_000142.5
p.P91fs
c.271_272fs
1 paper
NM_000142.5
p.P91S
c.271C>T
2 papers
NM_000142.5
p.L94P
c.281T>C
1 paper
NM_000142.5
p.L94_Q95insFs
c.282_283insCG
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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."