Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.G455delFs

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.G455delFs
c.1364delG
Surrounding Variants
1 paper
NM_004100.5
p.A460E
c.1379C>A
1 paper
NM_004100.5
p.Y449delFs
c.1345delT
1 paper
NM_004100.5
p.L467*
c.1400T>A
4 papers
NM_004100.5
p.S447Splc
c.1341-19T>A
1 paper
NM_004100.5
p.G470C
c.1408G>T
1 paper
NM_004100.5
p.G473E
c.1418G>A
2 papers
NM_004100.5
p.G473V
c.1418G>T
1 paper
NM_004100.5
p.R479delFs
c.1436delG
1 paper
NM_004100.5
p.A482V
c.1445C>T
2 papers
NM_004100.5
p.R484C
c.1450C>T
1 paper
NM_004100.5
p.R486*
c.1456A>T
1 paper
NM_004100.5
p.V488A
c.1463T>C
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