Varaico: Literature-Extracted Genetic Variants

Gene:EYA3
Variant:p.G435Splc

EYA3

41 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 and have a role during development. It can act as a mediator of chemo...

Pfam Domains

Hydrolaseaa 303–549UCSChaloacid dehalogenase-like hydrolase

Gene Aliases

HGNC Name

EYA transcriptional coactivator and phosphatase 3

HGNC Alias Symbol

DKFZp686C132

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001990.4
p.G435Splc
c.1304-1G>A
Surrounding Variants
1 paper
NM_001990.4
p.V454A
c.1361T>C
1 paper
NM_001990.4
p.G461E
c.1382G>A
1 paper
NM_001990.4
p.L480V
c.1438C>G
1 paper
NM_001990.4
p.T483S
c.1447A>T
1 paper
NM_001990.4
p.T483S
c.1448C>G
1 paper
NM_001990.4
p.V487F
c.1459G>T
1 paper
NM_001990.4
p.Y496F
c.1487A>T
1 paper
NM_001990.4
p.E500_I501insA
c.1498_1502ins3
1 paper
NM_001990.4
p.N506insFs
c.1516_1517ins4
1 paper
NM_001990.4
p.E505_N506insFs
c.1515_1516ins4
1 paper
NM_001990.4
p.Y508F
c.1523A>T
1 paper
NM_001990.4
p.G400D
c.1199G>A
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