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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBXL22

FBXL22

10 papers

RefSeq Summary

This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin lig...

Pfam Domains

F-box-likeaa 11–55UCSCF-box-like

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 22

HGNC Alias Symbols

Fbl22; FLJ39626

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

3 papers

chr15:63597671 G>C

NM_001367807.1

p.K93N

c.279G>C

exact variant not in gnomAD15 overlapping SVs

3 papers

chr15:63597671 G>T

NM_001367807.1

p.K93N

c.279G>T

exact variant not in gnomAD15 overlapping SVs

2 papers

chr15:63597403 T>A

NM_001367807.1

p.L4Q

c.11T>A

Exome: 0.7% (AC=10502, hom=59)Genome: 0.6% (AC=989, hom=9)15 overlapping SVs

1 paper

chr15:63597400 C>G

NM_001367807.1

p.P3R

c.8C>G

exact variant not in gnomAD15 overlapping SVs

1 paper

chr15:63597432 C>T

NM_001367807.1

p.R14W

c.40C>T

F-box-like

Exome: 0.0% (AC=4, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr15:63597524 G>C

NM_001367807.1

p.E44D

c.132G>C

F-box-like

Exome: 0.0% (AC=185, hom=2)Genome: 0.1% (AC=166, hom=1)15 overlapping SVs

1 paper

chr15:63597524 G>T

NM_001367807.1

p.E44D

c.132G>T

F-box-like

exact variant not in gnomAD15 overlapping SVs

1 paper

chr15:63597724 T>G

NM_001367807.1

p.F111C

c.332T>G

Exome: 0.0% (AC=607, hom=2)Genome: 0.0% (AC=50, hom=1)15 overlapping SVs

1 paper

chr15:63600787 G>A

NM_001367807.1

p.L148L

c.444G>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a15 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."