Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.Q268_D269Splc

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
1 paper
NM_004100.5
p.Q268_D269Splc
c.805-12T>A
Surrounding Variants
1 paper
NM_004100.5
p.Y270Y
c.810T>C
1 paper
NM_004100.5
p.S272delFs
c.814delT
1 paper
NM_004100.5
p.S272C
c.815C>G
1 paper
NM_004100.5
p.S272S
c.816C>G
1 paper
NM_004100.5
p.A275T
c.823G>A
1 paper
NM_004100.5
p.A275delFs
c.824delC
13 papers
NM_004100.5
p.G277S
c.829G>A
1 paper
NM_004100.5
p.Q280K
c.838C>A
2 papers
NM_004100.5
p.Y281F
c.842A>T
2 papers
NM_004100.5
p.Y284F
c.851A>T
2 papers
NM_004100.5
p.Y285F
c.854A>T
1 paper
NM_004100.5
p.Y285*
c.855T>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."