Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.V597fs

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
3 papers
NM_004100.5
p.V597fs
c.1789_1790fs
Surrounding Variants
1 paper
NM_004100.5
p.V597M
c.1789G>A
5 papers
NM_004100.5
p.V597delFs
c.1790delT
2 papers
NM_004100.5
p.V597fs
c.1789_1790fs
1 paper
NM_004100.5
p.G593fs
c.1777_1778fs
2 papers
NM_004100.5
p.G593delFs
c.1777delG
1 paper
NM_004100.5
p.I601M
c.1803T>G
1 paper
NM_004100.5
p.G602E
c.1805G>A
1 paper
NM_004100.5
p.Q590delFs
c.1769delA
4 papers
NM_004100.5
p.G604C
c.1810G>T
1 paper
NM_004100.5
p.M589V
c.1765A>G
2 papers
NM_004100.5
p.E606Q
c.1816G>C
18 papers
NM_004100.5
p.R587*
c.1759C>T
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