Varaico: Literature-Extracted Genetic Variants

Gene:EYA2
Variant:p.D18E

EYA2

71 papers

RefSeq Summary

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can a...

Pfam Domains

Hydrolaseaa 268–514UCSChaloacid dehalogenase-like hydrolase

Gene Aliases

HGNC Name

EYA transcriptional coactivator and phosphatase 2

HGNC Alias Symbol

EAB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005244.5
p.D18E
c.54T>A
Surrounding Variants
1 paper
NM_005244.5
p.D18E
c.54T>G
1 paper
NM_005244.5
p.D15N
c.43G>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."