Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.T343insFs

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.T343insFs
c.1028_1029insAA
Surrounding Variants
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.C344fs
c.1030_1031fs
8 papers
NM_004100.5
p.R342_T343insFs
c.1026_1027dupAA
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.L339F
c.1015C>T
9 papers
NM_004100.5
p.K350insFs
c.1048_1049dupAA
1 paper
NM_004100.5
p.R352fs
c.1054_1055fs
5 papers
NM_004100.5
p.R352fs
c.1054_1055fs
1 paper
NM_004100.5
p.R354delFs
c.1060delA
1 paper
NM_004100.5
p.P332L
c.995C>T
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