Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.S288*

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
13 papers
NM_004100.5
p.S288*
c.863C>A
Surrounding Variants
13 papers
NM_004100.5
p.S288*
c.863C>G
7 papers
NM_004100.5
p.T289M
c.866C>T
1 paper
NM_004100.5
p.T289T
c.867G>T
1 paper
NM_004100.5
p.Y285*
c.855T>A
1 paper
NM_004100.5
p.Y285*
c.855T>G
2 papers
NM_004100.5
p.Y285F
c.854A>T
2 papers
NM_004100.5
p.Y284F
c.851A>T
1 paper
NM_004100.5
p.A292V
c.875C>T
2 papers
NM_004100.5
p.Y281F
c.842A>T
1 paper
NM_004100.5
p.T295_S296insFs
c.885_886ins8
1 paper
NM_004100.5
p.T295insFs
c.884_885ins8
1 paper
NM_004100.5
p.T295I
c.884C>T
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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."