Varaico: Literature-Extracted Genetic Variants

Gene:FJX1
Variant:p.R218P

FJX1

17 papers

RefSeq Summary

The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for ...

Pfam Domains

FJX1_middleaa 139–249UCSCFour-jointed box protein middle domain

Gene Aliases

HGNC Name

four-jointed box kinase 1

HGNC Alias Symbols

FLJ22416; FLJ25593

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014344.4
p.R218P
c.653G>C
Surrounding Variants
1 paper
NM_014344.4
p.Q224R
c.671A>G
1 paper
NM_014344.4
p.Y196H
c.586T>C
1 paper
NM_014344.4
p.E191K
c.571G>A
1 paper
NM_014344.4
p.V179M
c.535G>A
1 paper
NM_014344.4
p.G174R
c.520G>C
1 paper
NM_014344.4
p.T299M
c.896C>T
1 paper
NM_014344.4
p.D303V
c.908A>T
1 paper
NM_014344.4
p.L312Q
c.935T>A
1 paper
NM_014344.4
p.P316R
c.947C>G
1 paper
NM_014344.4
p.H119R
c.356A>G
1 paper
NM_014344.4
p.R321L
c.962G>T
1 paper
NM_014344.4
p.D91fs
c.271_272fs
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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."