Varaico: Literature-Extracted Genetic Variants

Gene:FBXO43
Variant:p.R570W

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
Selected Variant
2 papers
NM_001029860.4
p.R570W
c.1708C>T
Surrounding Variants
1 paper
NM_001029860.4
p.A568G
c.1703C>G
1 paper
NM_001029860.4
p.E565K
c.1693G>A
2 papers
NM_001029860.4
p.A560V
c.1679C>T
1 paper
NM_001029860.4
p.G559R
c.1675G>C
1 paper
NM_001029860.4
p.G559R
c.1675G>A
9 papers
NM_001029860.4
p.Q583*
c.1747C>T
1 paper
NM_001029860.4
p.Q592delFs
c.1774_1775delTG
1 paper
NM_001029860.4
p.R593fs
c.1777_1778fs
1 paper
NM_001029860.4
p.R593delFs
c.1778delC
1 paper
NM_001029860.4
p.E594G
c.1781A>G
1 paper
NM_001029860.4
p.G603_E604insG
c.1807_1811ins3
1 paper
NM_001029860.4
p.L606F
c.1818G>T
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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."