Varaico: Literature-Extracted Genetic Variants

Gene:FBXO43
Variant:p.P118S

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.P118S
c.352C>T
Surrounding Variants
1 paper
NM_001029860.4
p.S121_P122ins1
c.363_364insACA
2 papers
NM_001029860.4
p.G114S
c.340G>A
1 paper
NM_001029860.4
p.P122L
c.365C>T
1 paper
NM_001029860.4
p.G112delFs
c.335_336delGC
1 paper
NM_001029860.4
p.T123T
c.369T>A
1 paper
NM_001029860.4
p.G112D
c.335G>A
2 papers
NM_001029860.4
p.S111L
c.332C>T
1 paper
NM_001029860.4
p.Q124ins1
c.371_372insACA
1 paper
NM_001029860.4
p.E109Fs
c.326delinsGGAAGGTGAGCTATFs
1 paper
NM_001029860.4
p.K126_K127delFs
c.378_379delTC
1 paper
NM_001029860.4
p.K127delFs
c.381delT
1 paper
NM_001029860.4
p.K137K
c.411A>G
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