Varaico: Literature-Extracted Genetic Variants

Gene:FGF3
Variant:p.Q195H

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
3 papers
NM_005247.4
p.Q195H
c.585G>T
Surrounding Variants
3 papers
NM_005247.4
p.Q195H
c.585G>C
1 paper
NM_005247.4
p.Q195*
c.583C>T
1 paper
NM_005247.4
p.R200T
c.599G>C
1 paper
NM_005247.4
p.P202S
c.604C>T
2 papers
NM_005247.4
p.G203S
c.607G>A
1 paper
NM_005247.4
p.H188Y
c.562C>T
1 paper
NM_005247.4
p.V206F
c.616G>T
2 papers
NM_005247.4
p.V206fs
c.616_617fs
7 papers
NM_005247.4
p.V206delFs
c.616delC
2 papers
NM_005247.4
p.R209*
c.625C>T
1 paper
NM_005247.4
p.V182M
c.544G>A
1 paper
NM_005247.4
p.R181R
c.543C>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."