Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.T309A

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.T309A
c.925A>G
Surrounding Variants
1 paper
NM_004100.5
p.S308F
c.923C>T
2 papers
NM_004100.5
p.L312F
c.936G>C
2 papers
NM_004100.5
p.L312F
c.936G>T
2 papers
NM_004100.5
p.S305fs
c.913_914fs
1 paper
NM_004100.5
p.P304T
c.910C>A
1 paper
NM_004100.5
p.P304fs
c.910_911fs
1 paper
NM_004100.5
p.E314*
c.940G>T
4 papers
NM_004100.5
p.P304delFs
c.910delC
1 paper
NM_004100.5
p.L316I
c.946C>A
1 paper
NM_004100.5
p.D301N
c.901G>A
2 papers
NM_004100.5
p.A300D
c.899C>A
2 papers
NM_004100.5
p.G318R
c.952G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."