Varaico: Literature-Extracted Genetic Variants

Gene:FBXO42
Variant:p.D241V

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.D241V
c.722A>T
Surrounding Variants
1 paper
NM_018994.3
p.P203S
c.607C>T
1 paper
NM_018994.3
p.A177T
c.529G>A
1 paper
NM_018994.3
p.P173R
c.518C>G
1 paper
NM_018994.3
p.P173S
c.517C>T
3 papers
NM_018994.3
p.Y170F
c.509A>T
1 paper
NM_018994.3
p.D259G
c.776A>G
1 paper
NM_018994.3
p.G304S
c.910G>A
1 paper
NM_018994.3
p.N306I
c.917A>T
1 paper
NM_018994.3
p.N306T
c.917A>C
1 paper
NM_018994.3
p.H342Y
c.1024C>T
1 paper
NM_018994.3
p.S376N
c.1127G>A
1 paper
NM_018994.3
p.R387*
c.1159C>T
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