Varaico: Literature-Extracted Genetic Variants

Gene:FBXO40
Variant:p.G260E

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.G260E
c.779G>A
Surrounding Variants
2 papers
NM_016298.4
p.K248I
c.743A>T
1 paper
NM_016298.4
p.S246T
c.736T>A
1 paper
NM_016298.4
p.A288V
c.863C>T
1 paper
NM_016298.4
p.P289R
c.866C>G
1 paper
NM_016298.4
p.A227T
c.679G>A
1 paper
NM_016298.4
p.L298L
c.892C>T
1 paper
NM_016298.4
p.N314S
c.941A>G
2 papers
NM_016298.4
p.E198E
c.594A>G
1 paper
NM_016298.4
p.V335L
c.1003G>C
1 paper
NM_016298.4
p.V347A
c.1040T>C
1 paper
NM_016298.4
p.R360Q
c.1079G>A
1 paper
NM_016298.4
p.K371R
c.1112A>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."