Varaico: Literature-Extracted Genetic Variants

Gene:FGF8
Variant:p.R189H

FGF8

203 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 bio...

Pfam Domains

FGFaa 70–193UCSCFibroblast growth factor

Gene Aliases

HGNC Name

fibroblast growth factor 8

HGNC Alias Symbol

AIGF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_033163.5
p.R189H
c.566G>A
NM_033164.4
p.R178H
c.533G>A
Surrounding Variants
1 paper
NM_033163.5
p.R187Q
c.560G>A
2 papers
NM_033163.5
p.S192delFs
c.574delA
1 paper
NM_033163.5
p.K193E
c.577A>G
1 paper
NM_033163.5
p.R184insFs
c.551dupG
3 papers
NM_033163.5
p.R184H
c.551G>A
1 paper
NM_033163.5
p.T194K
c.581C>A
2 papers
NM_033163.5
p.R184C
c.550C>T
1 paper
NM_033163.5
p.R195W
c.583C>T
1 paper
NM_033163.5
p.Y179*
c.537C>G
1 paper
NM_033163.5
p.Y179*
c.537C>A
1 paper
NM_033163.5
p.R199insFs
c.596dupG
5 papers
NM_033163.5
p.W178S
c.533G>C
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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."