Varaico: Literature-Extracted Genetic Variants

Gene:FEZ1
Variant:p.L46F

FEZ1

67 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. Expression of this gene in C. elegans unc-76 mutants can resto...

Pfam Domains

FEZaa 58–297UCSCFEZ-like protein

Gene Aliases

HGNC Name

fasciculation and elongation protein zeta 1

HGNC Alias Symbol

UNC-76

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005103.5
p.L46F
c.136C>T
Surrounding Variants
1 paper
NM_005103.5
p.S44S
c.132C>T
1 paper
NM_005103.5
p.S34F
c.101C>T
5 papers
NM_005103.5
p.S58A
c.172T>G
1 paper
NM_005103.5
p.M59L
c.175A>T
1 paper
NM_005103.5
p.M59L
c.175A>C
1 paper
NM_005103.5
p.G32S
c.94G>A
1 paper
NM_005103.5
p.E25*
c.73G>T
1 paper
NM_005103.5
p.E24*
c.70G>T
1 paper
NM_005103.5
p.E68Q
c.202G>C
1 paper
NM_005103.5
p.S18delFs
c.53delG
1 paper
NM_005103.5
p.S18S
c.54C>G
1 paper
NM_005103.5
p.S18F
c.53C>T
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