Varaico: Literature-Extracted Genetic Variants

Gene:FBXL8

FBXL8

22 papers

RefSeq Summary

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquiti...

Pfam Domains

F-box-likeaa 6–51UCSCF-box-like

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 8

HGNC Alias Symbol

Fbl8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
1 paper
NM_018378.3
p.R18_H19insFs
c.54_55insG
1 paper
NM_018378.3
p.L20_S21insFs
c.60_61insC
1 paper
NM_018378.3
p.S51Splc
c.152+2T>C
1 paper
NM_018378.3
p.E79K
c.235G>A
1 paper
NM_018378.3
p.R87Q
c.260G>A
1 paper
NM_018378.3
p.E113K
c.337G>A
1 paper
NM_018378.3
p.A119E
c.356C>A
1 paper
NM_018378.3
p.A129A
c.387T>A
1 paper
NM_018378.3
p.S166N
c.497G>A
1 paper
NM_018378.3
p.L167P
c.500T>C
1 paper
NM_018378.3
p.R225W
c.673C>T
1 paper
NM_018378.3
p.C226W
c.678C>G
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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."