Varaico: Literature-Extracted Genetic Variants

Gene:FBXO42
Variant:p.V681M

FBXO42

60 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; MIM 601434), cullin (see CUL1; MIM 603134), ...

Pfam Domains

F-box-likeaa 47–86UCSCF-box-like
Beta-prop_FBX42aa 119–322UCSCFBX42, beta-propeller domain

Gene Aliases

HGNC Name

F-box protein 42

HGNC Alias Symbols

KIAA1332; Fbx42

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018994.3
p.V681M
c.2041G>A
Surrounding Variants
1 paper
NM_018994.3
p.E675G
c.2024A>G
1 paper
NM_018994.3
p.S668G
c.2002A>G
1 paper
NM_018994.3
p.R659Q
c.1976G>A
1 paper
NM_018994.3
p.A709T
c.2125G>A
1 paper
NM_018994.3
p.A618fs
c.1852_1853fs
1 paper
NM_018994.3
p.P615R
c.1844C>G
1 paper
NM_018994.3
p.R603L
c.1808G>T
1 paper
NM_018994.3
p.R603H
c.1808G>A
1 paper
NM_018994.3
p.A575V
c.1724C>T
1 paper
NM_018994.3
p.P571P
c.1713C>T
1 paper
NM_018994.3
p.A562D
c.1685C>A
1 paper
NM_018994.3
p.L556V
c.1666C>G
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