Varaico: Literature-Extracted Genetic Variants

Gene:FJX1

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
1–12 of 20 variants
1 paper
NM_014344.4
p.T85I
c.254C>T
1 paper
NM_014344.4
p.A87V
c.260C>T
1 paper
NM_014344.4
p.G89_R98delFs
c.267_294del28
1 paper
NM_014344.4
p.D91fs
c.271_272fs
1 paper
NM_014344.4
p.H119R
c.356A>G
1 paper
NM_014344.4
p.G174R
c.520G>C
1 paper
NM_014344.4
p.V179M
c.535G>A
1 paper
NM_014344.4
p.E191K
c.571G>A
1 paper
NM_014344.4
p.Y196H
c.586T>C
1 paper
NM_014344.4
p.R218P
c.653G>C
1 paper
NM_014344.4
p.Q224R
c.671A>G
1 paper
NM_014344.4
p.T299M
c.896C>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."