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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBXO40

FBXO40

54 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO40, 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

zf-TRAF_2aa 12–104UCSCTRAF-like zinc-finger

F-boxaa 573–611UCSCF-box domain

Gene Aliases

HGNC Name

F-box protein 40

HGNC Alias Symbols

KIAA1195; Fbx40

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 68 variants

3 papers

chr3:121621689 T>C

NM_016298.4

p.V87A

c.260T>C

zf-TRAF_2

Exome: 27.7% (AC=404408, hom=61811)Genome: 31.1% (AC=47313, hom=8119)74 overlapping SVs

2 papers

chr3:121621490 C>T

NM_016298.4

p.R21C

c.61C>T

zf-TRAF_2

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=4, hom=0)74 overlapping SVs

2 papers

chr3:121621662 G>A

NM_016298.4

p.R78H

c.233G>A

zf-TRAF_2

Exome: 0.1% (AC=880, hom=8)Genome: 0.1% (AC=125, hom=1)74 overlapping SVs

2 papers

chr3:121622023 A>G

NM_016298.4

p.E198E

c.594A>G

exact variant not in gnomAD74 overlapping SVs

2 papers

chr3:121622172 A>T

NM_016298.4

p.K248I

c.743A>T

Exome: 0.6% (AC=8350, hom=25)Genome: 0.4% (AC=579, hom=4)75 overlapping SVs

2 papers

chr3:121623210 C>G

NM_016298.4

p.A594G

c.1781C>G

F-box

Exome: 0.2% (AC=3045, hom=6)Genome: 0.2% (AC=293, hom=0)75 overlapping SVs

1 paper

chr3:121621443 G>A

NM_016298.4

p.R5H

c.14G>A

Exome: 0.0% (AC=42, hom=0)Genome: 0.0% (AC=6, hom=0)74 overlapping SVs

1 paper

chr3:121621448 T>TC

NM_016298.4

p.P8insFs

c.23dupC

exact variant not in gnomAD74 overlapping SVs

1 paper

chr3:121621452 C>T

NM_016298.4

p.P8L

c.23C>T

Exome: 0.0% (AC=71, hom=0)Genome: 0.0% (AC=9, hom=0)74 overlapping SVs

1 paper

chr3:121621454 C>CN

NM_016298.4

p.P9fs

c.25_26fs

exact variant not in gnomAD74 overlapping SVs

1 paper

chr3:121621474 T>A

NM_016298.4

p.C15*

c.45T>A

zf-TRAF_2

exact variant not in gnomAD74 overlapping SVs

1 paper

chr3:121621487 A>T

NM_016298.4

p.N20Y

c.58A>T

zf-TRAF_2

exact variant not in gnomAD74 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."