Varaico: Literature-Extracted Genetic Variants

Gene:FBXO43
Variant:p.V324E

FBXO43

51 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-b...

Pfam Domains

FBXO43_HTHaa 440–482UCSCFBXO43 helix-turn-helix domain
F-boxaa 507–543UCSCF-box domain

Gene Aliases

HGNC Name

F-box protein 43

HGNC Alias Symbol

Fbx43

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001029860.4
p.V324E
c.971T>A
Surrounding Variants
1 paper
NM_001029860.4
p.I328T
c.983T>C
1 paper
NM_001029860.4
p.S315_Q316delFs
c.945_948del4
1 paper
NM_001029860.4
p.S327_D333delFs
c.980_999del20
1 paper
NM_001029860.4
p.G335_F336del2
c.1003_1007del6
1 paper
NM_001029860.4
p.S344*
c.1031C>G
1 paper
NM_001029860.4
p.S344*
c.1031C>A
1 paper
NM_001029860.4
p.G353S
c.1057G>A
1 paper
NM_001029860.4
p.D295H
c.883G>C
1 paper
NM_001029860.4
p.G293E
c.878G>A
1 paper
NM_001029860.4
p.E357insFs
c.1069_1070insAC
1 paper
NM_001029860.4
p.G289_T290del2
c.865_869del6
1 paper
NM_001029860.4
p.H362delFs
c.1085_1086delAT
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