Varaico: Literature-Extracted Genetic Variants

Gene:FBXO40
Variant:p.P8insFs

FBXO40

54 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO40, 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

zf-TRAF_2aa 12–104UCSCTRAF-like zinc-finger
F-boxaa 573–611UCSCF-box domain

Gene Aliases

HGNC Name

F-box protein 40

HGNC Alias Symbols

KIAA1195; Fbx40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016298.4
p.P8insFs
c.23dupC
Surrounding Variants
1 paper
NM_016298.4
p.P8L
c.23C>T
1 paper
NM_016298.4
p.R5H
c.14G>A
1 paper
NM_016298.4
p.P9fs
c.25_26fs
1 paper
NM_016298.4
p.C15*
c.45T>A
1 paper
NM_016298.4
p.N20Y
c.58A>T
2 papers
NM_016298.4
p.R21C
c.61C>T
1 paper
NM_016298.4
p.C33F
c.98G>T
1 paper
NM_016298.4
p.L40M
c.118C>A
1 paper
NM_016298.4
p.T45A
c.133A>G
1 paper
NM_016298.4
p.H47D
c.139C>G
1 paper
NM_016298.4
p.A52E
c.155C>A
1 paper
NM_016298.4
p.Q62*
c.184C>T
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