Varaico: Literature-Extracted Genetic Variants

Gene:EYA3
Variant:p.E19insFs

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
1 paper
NM_001990.4
p.E19insFs
c.55dupG
Surrounding Variants
2 papers
NM_001990.4
p.Q36*
c.106C>T
1 paper
NM_001990.4
p.S41*
c.122C>G
1 paper
NM_001990.4
p.I53Splc
c.158-11C>G
1 paper
NM_001990.4
p.D66V
c.197A>T
1 paper
NM_001990.4
p.M71L
c.211A>T
1 paper
NM_001990.4
p.M71L
c.211A>C
1 paper
NM_001990.4
p.K75Splc
c.224+1G>C
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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."