Varaico: Literature-Extracted Genetic Variants

Gene:EYA3
Variant:p.N358S

EYA3

41 papers

RefSeq Summary

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. It can act as a mediator of chemo...

Pfam Domains

Hydrolaseaa 303–549UCSChaloacid dehalogenase-like hydrolase

Gene Aliases

HGNC Name

EYA transcriptional coactivator and phosphatase 3

HGNC Alias Symbol

DKFZp686C132

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001990.4
p.N358S
c.1073A>G
NM_001282561.2
p.N312S
c.935A>G
Surrounding Variants
1 paper
NM_001990.4
p.S319L
c.956C>T
1 paper
NM_001990.4
p.T313A
c.937A>G
1 paper
NM_001990.4
p.E312G
c.935A>G
1 paper
NM_001990.4
p.D311Y
c.931G>T
1 paper
NM_001990.4
p.D311N
c.931G>A
1 paper
NM_001990.4
p.D309N
c.925G>A
1 paper
NM_001990.4
p.G400D
c.1199G>A
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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."