Varaico: Literature-Extracted Genetic Variants

Gene:FBXO46
Variant:p.F103delins

FBXO46

37 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO46, 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

F-box-likeaa 473–510UCSCF-box-like

Gene Aliases

HGNC Name

F-box protein 46

HGNC Previous Symbol

FBXO34L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080469.2
p.F103delins
c.307_308delinsGC
Surrounding Variants
1 paper
NM_001080469.2
p.I92M
c.276C>G
1 paper
NM_001080469.2
p.R114Q
c.341G>A
1 paper
NM_001080469.2
p.V120L
c.358G>C
1 paper
NM_001080469.2
p.H123R
c.368A>G
1 paper
NM_001080469.2
p.P69_L72del4
c.205_215del12
2 papers
NM_001080469.2
p.P69_L72del0
c.206_214del9
1 paper
NM_001080469.2
p.Q68K
c.202C>A
1 paper
NM_001080469.2
p.S67A
c.199T>G
1 paper
NM_001080469.2
p.P145L
c.434C>T
1 paper
NM_001080469.2
p.G149D
c.446G>A
1 paper
NM_001080469.2
p.P154fs
c.460_461fs
1 paper
NM_001080469.2
p.G42V
c.125G>T
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