Varaico: Literature-Extracted Genetic Variants

Gene:FBXO40
Variant:p.V87A

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
3 papers
NM_016298.4
p.V87A
c.260T>C
Surrounding Variants
1 paper
NM_016298.4
p.C88Y
c.263G>A
1 paper
NM_016298.4
p.V92M
c.274G>A
2 papers
NM_016298.4
p.R78H
c.233G>A
1 paper
NM_016298.4
p.E98G
c.293A>G
1 paper
NM_016298.4
p.S68S
c.204C>T
1 paper
NM_016298.4
p.D106G
c.317A>G
1 paper
NM_016298.4
p.Q62*
c.184C>T
1 paper
NM_016298.4
p.I115S
c.344T>G
1 paper
NM_016298.4
p.A52E
c.155C>A
1 paper
NM_016298.4
p.E123K
c.367G>A
1 paper
NM_016298.4
p.H47D
c.139C>G
1 paper
NM_016298.4
p.T45A
c.133A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."