Varaico: Literature-Extracted Genetic Variants

Gene:FBXO44
Variant:p.A186T

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
Selected Variant
1 paper
NM_033182.7
p.A186T
c.556G>A
Surrounding Variants
1 paper
NM_033182.7
p.L181P
c.542T>C
1 paper
NM_033182.7
p.L180R
c.539T>G
1 paper
NM_033182.7
p.I198M
c.594C>G
1 paper
NM_033182.7
p.L150R
c.449T>G
1 paper
NM_033182.7
p.N119H
c.355A>C
1 paper
NM_033182.7
p.R111Q
c.332G>A
1 paper
NM_033182.7
p.W94*
c.281G>A
1 paper
NM_033182.7
p.Y222H
c.664T>C
1 paper
NM_033182.7
p.H233Q
c.699T>A
1 paper
NM_033182.7
p.H233Q
c.699T>G
1 paper
NM_033182.7
p.G240S
c.718G>A
1 paper
NM_033182.7
p.R242R
c.724A>C
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