Varaico: Literature-Extracted Genetic Variants

Gene:FBXO46
Variant:p.K386N

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.K386N
c.1158G>C
Surrounding Variants
1 paper
NM_001080469.2
p.K386N
c.1158G>T
1 paper
NM_001080469.2
p.P416L
c.1247C>T
1 paper
NM_001080469.2
p.G418delFs
c.1254delC
1 paper
NM_001080469.2
p.P420fs
c.1258_1259fs
1 paper
NM_001080469.2
p.E421G
c.1262A>G
1 paper
NM_001080469.2
p.P424fs
c.1270_1271fs
1 paper
NM_001080469.2
p.P424delFs
c.1271delG
1 paper
NM_001080469.2
p.T440A
c.1318A>G
1 paper
NM_001080469.2
p.D442A
c.1325A>C
1 paper
NM_001080469.2
p.R447C
c.1339C>T
1 paper
NM_001080469.2
p.R450W
c.1348C>T
1 paper
NM_001080469.2
p.V452M
c.1354G>A
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