Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.S447R

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.S447R
c.1341T>G
Surrounding Variants
1 paper
NM_004100.5
p.S447R
c.1341T>A
1 paper
NM_004100.5
p.S447R
c.1339A>C
11 papers
NM_004100.5
p.I434K
c.1301T>A
NM_172103.4
p.I411K
c.1232T>A
1 paper
NM_004100.5
p.C429S
c.1286G>C
1 paper
NM_004100.5
p.C429S
c.1285T>A
4 papers
NM_004100.5
p.E427_E428Splc
c.1282-1G>A
10 papers
NM_004100.5
p.E427_E428Splc
c.1282-12T>A
4 papers
NM_004100.5
p.S447Splc
c.1341-19T>A
1 paper
NM_004100.5
p.Y449delFs
c.1345delT
1 paper
NM_004100.5
p.G455delFs
c.1364delG
1 paper
NM_004100.5
p.A460E
c.1379C>A
1 paper
NM_004100.5
p.L467*
c.1400T>A
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