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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FEZ2

Variant:p.E12K

FEZ2

31 papers

RefSeq Summary

This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, wh...

Pfam Domains

FEZaa 48–286UCSCFEZ-like protein

Gene Aliases

HGNC Name

fasciculation and elongation protein zeta 2

HGNC Alias Name

zygin II

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:36598109 C>T

NM_005102.3

p.E12K

c.34G>A

Exome: 0.0% (AC=3, hom=0)Genome: n/a97 overlapping SVs

Surrounding Variants

4 papers

chr2:36598027 T>C

NM_005102.3

p.E39G

c.116A>G

Exome: 75.7% (AC=1011718, hom=382879)Genome: 78.8% (AC=116454, hom=46015)95 overlapping SVs

1 paper

chr2:36598024 G>C

NM_005102.3

p.A40G

c.119C>G

Exome: 0.3% (AC=3987, hom=0)Genome: 0.2% (AC=241, hom=0)95 overlapping SVs

2 papers

chr2:36597994 G>A

NM_005102.3

p.P50L

c.149C>T

FEZ

Exome: 76.3% (AC=1022489, hom=392079)Genome: 80.3% (AC=121677, hom=49332)95 overlapping SVs

1 paper

chr2:36597896 T>A

NM_005102.3

p.S83C

c.247A>T

FEZ

exact variant not in gnomAD95 overlapping SVs

1 paper

chr2:36590994 G>A

NM_005102.3

p.T95I

c.284C>T

FEZ

Exome: 0.0% (AC=1, hom=0)Genome: n/a96 overlapping SVs

1 paper

chr2:36590966 T>C

NM_005102.3

p.V104V

c.312A>G

FEZ

Exome: 0.4% (AC=5710, hom=12)Genome: 0.3% (AC=411, hom=0)96 overlapping SVs

1 paper

chr2:36590936 CA>C

NM_005102.3

p.L114delFs

c.341delA

FEZ

exact variant not in gnomAD96 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."