Varaico: Literature-Extracted Genetic Variants

Gene:FBXO43

FBXO43

51 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO43, 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

FBXO43_HTHaa 440–482UCSCFBXO43 helix-turn-helix domain
F-boxaa 507–543UCSCF-box domain

Gene Aliases

HGNC Name

F-box protein 43

HGNC Alias Symbol

Fbx43

Papers
RefSeq ID
Protein change
DNA change
1–12 of 157 variants
9 papers
NM_001029860.4
p.Q583*
c.1747C>T
5 papers
NM_001029860.4
p.D52fs
c.154_155fs
5 papers
NM_001029860.4
p.G664D
c.1991G>A
4 papers
NM_001029860.4
p.D52delFs
c.154delC
4 papers
NM_001029860.4
p.E500fs
c.1498_1499fs
2 papers
NM_001029860.4
p.S111L
c.332C>T
2 papers
NM_001029860.4
p.G114S
c.340G>A
2 papers
NM_001029860.4
p.R156delFs
c.467delC
2 papers
NM_001029860.4
p.I497_T499insFs
c.1490_1497dup8
2 papers
NM_001029860.4
p.A560V
c.1679C>T
2 papers
NM_001029860.4
p.R570W
c.1708C>T
1 paper
NM_001029860.4
p.M1V
c.1A>G
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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."