Varaico: Literature-Extracted Genetic Variants

Gene:FBXO43
Variant:p.D52delFs

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
4 papers
NM_001029860.4
p.D52delFs
c.154delC
Surrounding Variants
5 papers
NM_001029860.4
p.D52fs
c.154_155fs
1 paper
NM_001029860.4
p.G50E
c.149G>A
1 paper
NM_001029860.4
p.G50W
c.148G>T
1 paper
NM_001029860.4
p.G48_N49del1
c.143_145delTTC
1 paper
NM_001029860.4
p.T45_E46delFs
c.135_136delCA
1 paper
NM_001029860.4
p.G44D
c.131G>A
1 paper
NM_001029860.4
p.Q42L
c.125A>T
1 paper
NM_001029860.4
p.Q42E
c.124C>G
1 paper
NM_001029860.4
p.M35insFs
c.103dupA
1 paper
NM_001029860.4
p.Q74H
c.222A>T
1 paper
NM_001029860.4
p.Q74H
c.222A>C
1 paper
NM_001029860.4
p.Y78*
c.234C>G
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