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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBXO6

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 23 variants

4 papers

chr1:11668809 A>G

NM_018438.6

p.M51V

c.151A>G

F-box-like

Exome: 0.0% (AC=230, hom=1)Genome: 0.0% (AC=23, hom=0)54 overlapping SVs

4 papers

chr1:11668837 G>A

NM_018438.6

p.R60Q

c.179G>A

F-box-like

Exome: 12.2% (AC=178140, hom=11755)Genome: 11.6% (AC=17592, hom=1153)54 overlapping SVs

2 papers

chr1:11668896 T>G

NM_018438.6

p.F80V

c.238T>G

FBA

Exome: 0.0% (AC=385, hom=1)Genome: 0.0% (AC=21, hom=0)53 overlapping SVs

2 papers

chr1:11673282 C>T

NM_018438.6

p.A172V

c.515C>T

FBA

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=37, hom=0)50 overlapping SVs

2 papers

chr1:11673789 C>A

NM_018438.6

p.Q274K

c.820C>A

Exome: 1.0% (AC=14826, hom=90)Genome: 0.6% (AC=985, hom=7)50 overlapping SVs

1 paper

chr1:11668741 T>G

NM_018438.6

p.V28G

c.83T>G

F-box-like

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)54 overlapping SVs

1 paper

chr1:11668746 G>A

NM_018438.6

p.A30T

c.88G>A

F-box-like

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=2, hom=0)54 overlapping SVs

1 paper

chr1:11668834 T>C

NM_018438.6

p.L59P

c.176T>C

F-box-like

Exome: 0.0% (AC=4, hom=0)Genome: n/a54 overlapping SVs

1 paper

chr1:11668855 A>C

NM_018438.6

p.K66T

c.197A>C

exact variant not in gnomAD53 overlapping SVs

1 paper

chr1:11668863 G>T

NM_018438.6

p.D69Y

c.205G>T

exact variant not in gnomAD53 overlapping SVs

1 paper

chr1:11668914 A>T

NM_018438.6

p.R86W

c.256A>T

FBA

exact variant not in gnomAD53 overlapping SVs

1 paper

chr1:11668937 T>A

NM_018438.6

p.C93*

c.279T>A

FBA

exact variant not in gnomAD53 overlapping SVs

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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."