Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.Y107D

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.Y107D
c.319T>G
Surrounding Variants
1 paper
NM_000142.5
p.Y107C
c.320A>G
1 paper
NM_000142.5
p.Y107*
c.321C>A
1 paper
NM_000142.5
p.Y107*
c.321C>G
2 papers
NM_000142.5
p.A106V
c.317C>T
2 papers
NM_000142.5
p.A106T
c.316G>A
1 paper
NM_000142.5
p.A106S
c.316G>T
1 paper
NM_000142.5
p.S108N
c.323G>A
1 paper
NM_000142.5
p.G105R
c.313G>A
1 paper
NM_000142.5
p.G105R
c.313G>C
1 paper
NM_000142.5
p.G105fs
c.313_314fs
1 paper
NM_000142.5
p.S104S
c.312C>T
1 paper
NM_000142.5
p.C109C
c.327C>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."