Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.L339F

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.L339F
c.1015C>T
Surrounding Variants
8 papers
NM_004100.5
p.R342_T343insFs
c.1026_1027dupAA
1 paper
NM_004100.5
p.T343fs
c.1027_1028fs
4 papers
NM_004100.5
p.T343fs
c.1027_1028fs
1 paper
NM_004100.5
p.T343insFs
c.1028_1029insAA
1 paper
NM_004100.5
p.C344fs
c.1030_1031fs
1 paper
NM_004100.5
p.P332L
c.995C>T
1 paper
NM_004100.5
p.R345S
c.1035G>C
1 paper
NM_004100.5
p.R345S
c.1035G>T
1 paper
NM_004100.5
p.S331fs
c.991_992fs
5 papers
NM_004100.5
p.Q330*
c.988C>T
3 papers
NM_004100.5
p.M329I
c.987G>A
3 papers
NM_004100.5
p.M329I
c.987G>C
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