Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.L309_K310delins

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.L309_K310delins
c.926_929delinsACAC
Surrounding Variants
2 papers
NM_000142.5
p.L309H
c.926T>A
1 paper
NM_000142.5
p.K310*
c.928A>T
1 paper
NM_000142.5
p.K310T
c.929A>C
2 papers
NM_000142.5
p.K310R
c.929A>G
2 papers
NM_000142.5
p.V308M
c.922G>A
2 papers
NM_000142.5
p.K310K
c.930G>A
1 paper
NM_000142.5
p.T307T
c.921C>T
1 paper
NM_000142.5
p.T307I
c.920C>T
1 paper
NM_000142.5
p.T307A
c.919A>G
1 paper
NM_000142.5
p.K310_T311Splc
c.930+5G>C
8 papers
NM_000142.5
p.V306I
c.916G>A
1 paper
NM_000142.5
p.V306_V308ins1
c.916_924dup9
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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."