Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.P300L

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
2 papers
NM_000142.5
p.P300L
c.899C>T
Surrounding Variants
1 paper
NM_000142.5
p.D301G
c.902A>G
1 paper
NM_000142.5
p.G299D
c.896G>A
1 paper
NM_000142.5
p.G299_P300delins
c.896_899delinsG
3 papers
NM_000142.5
p.G299S
c.895G>A
1 paper
NM_000142.5
p.G299fs
c.895_896fs
2 papers
NM_000142.5
p.G302fs
c.904_905fs
1 paper
NM_000142.5
p.V298V
c.894G>T
3 papers
NM_000142.5
p.G302D
c.905G>A
1 paper
NM_000142.5
p.V298G
c.893T>G
1 paper
NM_000142.5
p.T303_P304insCC
c.907_911ins6
1 paper
NM_000142.5
p.K297N
c.891G>T
1 paper
NM_000142.5
p.P304del1
c.910_911delCCC
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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."