Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.Q322_P323delFs

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.Q322_P323delFs
c.966_967delAC
Surrounding Variants
1 paper
NM_004100.5
p.Q322insFs
c.965_966insA
1 paper
NM_004100.5
p.P323L
c.968C>T
2 papers
NM_004100.5
p.G318R
c.952G>A
1 paper
NM_004100.5
p.G318R
c.952G>C
1 paper
NM_004100.5
p.G318*
c.952G>T
1 paper
NM_004100.5
p.L316I
c.946C>A
1 paper
NM_004100.5
p.E314*
c.940G>T
2 papers
NM_004100.5
p.L312F
c.936G>C
2 papers
NM_004100.5
p.L312F
c.936G>T
1 paper
NM_004100.5
p.T309A
c.925A>G
1 paper
NM_004100.5
p.S308F
c.923C>T
2 papers
NM_004100.5
p.S305fs
c.913_914fs
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