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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBXO36

Variant:p.L86F

FBXO36

12 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO36, 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 95–140UCSCF-box-like

Gene Aliases

HGNC Name

F-box protein 36

HGNC Alias Symbols

Fbx36; FLJ37592

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

4 papers

chr2:229996803 G>C

NM_174899.5

p.L86F

c.258G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a56 overlapping SVs

Surrounding Variants

4 papers

chr2:229996803 G>T

NM_174899.5

p.L86F

c.258G>T

Exome: 22.6% (AC=329716, hom=38812)Genome: 21.4% (AC=32491, hom=3558)56 overlapping SVs

1 paper

chr2:229996823 T>A

NM_174899.5

p.F93Y

c.278T>A

exact variant not in gnomAD56 overlapping SVs

1 paper

chr2:229996831 C>T

NM_174899.5

p.R96W

c.286C>T

F-box-like

Exome: 0.0% (AC=106, hom=0)Genome: 0.1% (AC=78, hom=0)56 overlapping SVs

1 paper

chr2:229996916 T>A

NM_174899.5

p.F124Y

c.371T>A

F-box-like

exact variant not in gnomAD56 overlapping SVs

1 paper

chr2:229996918 G>C

NM_174899.5

p.A125P

c.373G>C

F-box-like

exact variant not in gnomAD56 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."