Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.T295insFs

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.T295insFs
c.884_885ins8
Surrounding Variants
1 paper
NM_004100.5
p.T295_S296insFs
c.885_886ins8
1 paper
NM_004100.5
p.T295I
c.884C>T
1 paper
NM_004100.5
p.S296insFs
c.887dupC
1 paper
NM_004100.5
p.S296L
c.887C>T
1 paper
NM_004100.5
p.T299_A300del2
c.895_899del6
1 paper
NM_004100.5
p.A292V
c.875C>T
2 papers
NM_004100.5
p.T299P
c.895A>C
2 papers
NM_004100.5
p.A300D
c.899C>A
1 paper
NM_004100.5
p.D301N
c.901G>A
1 paper
NM_004100.5
p.T289T
c.867G>T
7 papers
NM_004100.5
p.T289M
c.866C>T
13 papers
NM_004100.5
p.S288*
c.863C>A
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