Varaico: Literature-Extracted Genetic Variants

Gene:FBXO6
Variant:p.E199*

FBXO6

34 papers

RefSeq Summary

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquiti...

Pfam Domains

F-box-likeaa 13–60UCSCF-box-like
FBAaa 79–257UCSCF-box associated region

Gene Aliases

HGNC Name

F-box protein 6

HGNC Alias Symbols

FBX6; FBG2; FBS2; Fbx6b

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018438.6
p.E199*
c.595G>T
Surrounding Variants
1 paper
NM_018438.6
p.N210fs
c.628_629fs
1 paper
NM_018438.6
p.T180N
c.539C>A
2 papers
NM_018438.6
p.A172V
c.515C>T
1 paper
NM_018438.6
p.G235E
c.704G>A
1 paper
NM_018438.6
p.R249Q
c.746G>A
2 papers
NM_018438.6
p.Q274K
c.820C>A
1 paper
NM_018438.6
p.V290I
c.868G>A
1 paper
NM_018438.6
p.W154C
c.462G>C
1 paper
NM_018438.6
p.W154C
c.462G>T
1 paper
NM_018438.6
p.E151Q
c.451G>C
1 paper
NM_018438.6
p.D123N
c.367G>A
1 paper
NM_018438.6
p.E114Q
c.340G>C
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