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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBXO39

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 45 variants

5 papers

chr17:6779896 C>T

NM_153230.3

p.P10S

c.28C>T

Exome: 23.2% (AC=339462, hom=43769)Genome: 23.4% (AC=35599, hom=4605)8 overlapping SVs

3 papers

chr17:6780559 C>T

NM_153230.3

p.L231F

c.691C>T

Exome: 5.5% (AC=80563, hom=2496)Genome: 5.1% (AC=7751, hom=249)8 overlapping SVs

2 papers

chr17:6779875 G>A

NM_153230.3

p.E3K

c.7G>A

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=6, hom=0)8 overlapping SVs

2 papers

chr17:6780242 G>A

NM_153230.3

p.R125H

c.374G>A

Exome: 0.1% (AC=1832, hom=34)Genome: 0.1% (AC=114, hom=2)8 overlapping SVs

2 papers

chr17:6780365 A>G

NM_153230.3

p.Y166C

c.497A>G

Exome: 14.1% (AC=206753, hom=15748)Genome: 16.3% (AC=24723, hom=2246)8 overlapping SVs

2 papers

chr17:6780394 G>A

NM_153230.3

p.V176M

c.526G>A

Exome: 0.0% (AC=93, hom=0)Genome: 0.0% (AC=7, hom=0)8 overlapping SVs

2 papers

chr17:6780646 G>A

NM_153230.3

p.V260I

c.778G>A

Exome: 0.1% (AC=1023, hom=11)Genome: 0.6% (AC=902, hom=2)8 overlapping SVs

2 papers

chr17:6786842 C>T

NM_153230.3

p.I362I

c.1086C>T

Exome: 22.6% (AC=330218, hom=41388)Genome: 22.2% (AC=33703, hom=4140)8 overlapping SVs

1 paper

chr17:6779890 A>T

NM_153230.3

p.I8F

c.22A>T

Exome: 0.5% (AC=6635, hom=18)Genome: 0.3% (AC=444, hom=1)8 overlapping SVs

1 paper

chr17:6779897 C>T

NM_153230.3

p.P10L

c.29C>T

exact variant not in gnomAD8 overlapping SVs

1 paper

chr17:6779945 G>A

NM_153230.3

p.R26H

c.77G>A

F-box-like

Exome: 0.3% (AC=4056, hom=18)Genome: 0.2% (AC=301, hom=0)8 overlapping SVs

1 paper

chr17:6779971 G>GN

NM_153230.3

p.D35fs

c.103_104fs

F-box-like

exact variant not in gnomAD8 overlapping SVs

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