Varaico: Literature-Extracted Genetic Variants

Gene:FGF3
Variant:p.H38L

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
2 papers
NM_005247.4
p.H38L
c.113A>T
Surrounding Variants
1 paper
NM_005247.4
p.H38H
c.114C>T
1 paper
NM_005247.4
p.H38Y
c.112C>T
1 paper
NM_005247.4
p.E37K
c.109G>A
1 paper
NM_005247.4
p.A42fs
c.124_125fs
1 paper
NM_005247.4
p.G34C
c.100G>T
1 paper
NM_005247.4
p.R44R
c.130C>A
2 papers
NM_005247.4
p.R44fs
c.130_131fs
1 paper
NM_005247.4
p.R45S
c.133C>A
1 paper
NM_005247.4
p.G31C
c.91G>T
1 paper
NM_005247.4
p.G31S
c.91G>A
1 paper
NM_005247.4
p.R44_R45delFs
c.131_134del4
1 paper
NM_005247.4
p.R46L
c.137G>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."