Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.E607Q

EYA4

250 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 through its protein phosphatase activity, and it may be important for...

Pfam Domains

Hydrolaseaa 375–621UCSChaloacid dehalogenase-like hydrolase

Gene Aliases

HGNC Name

EYA transcriptional coactivator and phosphatase 4

HGNC Previous Symbols

DFNA10; CMD1J

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004100.5
p.E607Q
c.1819G>C
Surrounding Variants
2 papers
NM_004100.5
p.E606Q
c.1816G>C
2 papers
NM_004100.5
p.E608Q
c.1822G>C
4 papers
NM_004100.5
p.G604C
c.1810G>T
1 paper
NM_004100.5
p.A611E
c.1832C>A
1 paper
NM_004100.5
p.K612_K613del2
c.1834_1838del6
1 paper
NM_004100.5
p.G602E
c.1805G>A
5 papers
NM_004100.5
p.K612*
c.1834A>T
1 paper
NM_004100.5
p.I601M
c.1803T>G
1 paper
NM_004100.5
p.V597M
c.1789G>A
3 papers
NM_004100.5
p.V597fs
c.1789_1790fs
5 papers
NM_004100.5
p.V597delFs
c.1790delT
2 papers
NM_004100.5
p.V597fs
c.1789_1790fs
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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."