Varaico: Literature-Extracted Genetic Variants

Gene:FBXO43
Variant:p.A412delFs

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.A412delFs
c.1235delG
Surrounding Variants
1 paper
NM_001029860.4
p.A411G
c.1232C>G
1 paper
NM_001029860.4
p.A411E
c.1232C>A
1 paper
NM_001029860.4
p.S418insFs
c.1254dupA
1 paper
NM_001029860.4
p.D429_L430delFs
c.1286_1289del4
1 paper
NM_001029860.4
p.S391I
c.1172G>T
1 paper
NM_001029860.4
p.R380_S381delFs
c.1140_1143del4
1 paper
NM_001029860.4
p.R380K
c.1139G>A
1 paper
NM_001029860.4
p.L378_G379del2
c.1132_1136del6
1 paper
NM_001029860.4
p.L378F
c.1132C>T
1 paper
NM_001029860.4
p.H377Y
c.1129C>T
1 paper
NM_001029860.4
p.R376delFs
c.1126delT
1 paper
NM_001029860.4
p.K374_T375delFs
c.1122_1125del4
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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."