Varaico: Literature-Extracted Genetic Variants

Gene:FGF8
Variant:p.V53L

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
1 paper
NM_033163.5
p.V53L
c.157G>C
Surrounding Variants
2 papers
NM_033163.5
p.V53L
c.157G>T
1 paper
NM_033163.5
p.Q52_V53Splc
c.157-6C>G
1 paper
NM_033163.5
p.V55delFs
c.163delC
1 paper
NM_033163.5
p.P59P
c.177T>G
1 paper
NM_033163.5
p.N60N
c.180T>C
1 paper
NM_033163.5
p.N60K
c.180T>A
1 paper
NM_033163.5
p.F61Y
c.182T>A
1 paper
NM_033163.5
p.Q63delFs
c.189delC
1 paper
NM_033163.5
p.H64L
c.191A>T
1 paper
NM_033163.5
p.R66W
c.196A>T
1 paper
NM_033164.4
p.E56Q
c.166G>C
1 paper
NM_033163.5
p.Q68_L70del3
c.202_209del9
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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."