Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.V488A

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.V488A
c.1463T>C
Surrounding Variants
1 paper
NM_001301012.2
p.K435N
c.1305A>C
1 paper
NM_004100.5
p.E490K
c.1468G>A
9 papers
NM_004100.5
p.E490insFs
c.1468_1469insAA
2 papers
NM_004100.5
p.E490*
c.1468G>T
1 paper
NM_004100.5
p.R486*
c.1456A>T
2 papers
NM_004100.5
p.R484C
c.1450C>T
3 papers
NM_004100.5
p.T494insFs
c.1481dupC
1 paper
NM_004100.5
p.A482V
c.1445C>T
1 paper
NM_004100.5
p.T494I
c.1481C>T
7 papers
NM_004100.5
p.N497insFs
c.1490_1491insAA
1 paper
NM_004100.5
p.R479delFs
c.1436delG
2 papers
NM_004100.5
p.N498N
c.1494C>T
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