Varaico: Literature-Extracted Genetic Variants

Gene:FBXO44

FBXO44

26 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 6–53UCSCF-box-like
FBAaa 72–126UCSCF-box associated region
FBAaa 72–250UCSCF-box associated region

Gene Aliases

HGNC Name

F-box protein 44

HGNC Alias Symbols

FBX30; FBG3; MGC14140; Fbxo6a; Fbx44

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
4 papers
NM_033182.7
p.E59K
c.175G>A
1 paper
NM_033182.7
p.P22_R24insFs
c.66_70dup5
1 paper
NM_033182.7
p.R24fs
c.70_71fs
1 paper
NM_033182.7
p.R24C
c.70C>T
1 paper
NM_033182.7
p.R49delFs
c.146delG
1 paper
NM_033182.7
p.R53*
c.157C>T
1 paper
NM_033182.7
p.E59V
c.176A>T
1 paper
NM_033182.7
p.D60Y
c.178G>T
1 paper
NM_033182.7
p.P85L
c.254C>T
1 paper
NM_033182.7
p.A87T
c.259G>A
1 paper
NM_033182.7
p.W94*
c.281G>A
1 paper
NM_033182.7
p.R111Q
c.332G>A
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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."