Varaico: Literature-Extracted Genetic Variants

Gene:FGF3
Variant:p.R45S

FGF3

213 papers

RefSeq Summary

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biol...

Pfam Domains

FGFaa 44–179UCSCFibroblast growth factor

Gene Aliases

HGNC Name

fibroblast growth factor 3

HGNC Previous Symbol

INT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005247.4
p.R45S
c.133C>A
Surrounding Variants
2 papers
NM_005247.4
p.R44fs
c.130_131fs
1 paper
NM_005247.4
p.R44_R45delFs
c.131_134del4
1 paper
NM_005247.4
p.R44R
c.130C>A
1 paper
NM_005247.4
p.R46L
c.137G>T
2 papers
NM_005247.4
p.R46P
c.137G>C
1 paper
NM_005247.4
p.G41_R46delFs
c.123_138del16
1 paper
NM_005247.4
p.A42fs
c.124_125fs
4 papers
NM_005247.4
p.Y49C
c.146A>G
4 papers
NM_005247.4
p.C50*
c.150C>A
1 paper
NM_005247.4
p.A51T
c.151G>A
1 paper
NM_005247.4
p.H38H
c.114C>T
2 papers
NM_005247.4
p.H38L
c.113A>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."