Varaico: Literature-Extracted Genetic Variants

Gene:FBXO39
Variant:p.W269*

FBXO39

45 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO39, 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 16–62UCSCF-box-like

Gene Aliases

HGNC Name

F-box protein 39

HGNC Alias Symbols

MGC35179; Fbx39; CT144

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153230.3
p.W269*
c.806G>A
Surrounding Variants
1 paper
NM_153230.3
p.W269*
c.807G>A
1 paper
NM_153230.3
p.S272S
c.816C>G
1 paper
NM_153230.3
p.G265E
c.794G>A
1 paper
NM_153230.3
p.H264H
c.792C>T
1 paper
NM_153230.3
p.K275*
c.823A>T
2 papers
NM_153230.3
p.V260I
c.778G>A
1 paper
NM_153230.3
p.R300Q
c.899G>A
3 papers
NM_153230.3
p.L231F
c.691C>T
1 paper
NM_153230.3
p.S228S
c.684C>A
1 paper
NM_153230.3
p.D331fs
c.991_992fs
1 paper
NM_153230.3
p.L340L
c.1020G>T
1 paper
NM_153230.3
p.L183F
c.547C>T
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