Varaico: Literature-Extracted Genetic Variants

Gene:FBXO42
Variant:p.P471A

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
10 papers
NM_018994.3
p.P471A
c.1411C>G
Surrounding Variants
1 paper
NM_018994.3
p.S469S
c.1407T>C
1 paper
NM_018994.3
p.A483P
c.1447G>C
1 paper
NM_018994.3
p.R485fs
c.1453_1454fs
1 paper
NM_018994.3
p.R486*
c.1456C>T
1 paper
NM_018994.3
p.I438V
c.1312A>G
3 papers
NM_018994.3
p.A509T
c.1525G>A
1 paper
NM_018994.3
p.R432T
c.1295G>C
1 paper
NM_018994.3
p.E425K
c.1273G>A
1 paper
NM_018994.3
p.G517D
c.1550G>A
1 paper
NM_018994.3
p.N405N
c.1215C>T
1 paper
NM_018994.3
p.V537A
c.1610T>C
1 paper
NM_018994.3
p.A401D
c.1202C>A
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