Varaico: Literature-Extracted Genetic Variants

Gene:EYA3
Variant:p.S168*

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
1 paper
NM_001990.4
p.S168*
c.503C>G
Surrounding Variants
1 paper
NM_001990.4
p.S168*
c.503C>A
1 paper
NM_001990.4
p.A167_S168insFs
c.501_502insA
1 paper
NM_001990.4
p.A167insFs
c.500_501insA
1 paper
NM_001990.4
p.Q195_D196Splc
c.585+177T>C
1 paper
NM_001990.4
p.Q205*
c.613C>T
1 paper
NM_001990.4
p.Y208F
c.623A>T
1 paper
NM_001990.4
p.T220A
c.658A>G
1 paper
NM_001990.4
p.T236delFs
c.707delG
1 paper
NM_001990.4
p.Y237F
c.710A>T
1 paper
NM_001990.4
p.V244V
c.732C>A
1 paper
NM_001990.4
p.G257Splc
c.770-2A>G
1 paper
NM_001990.4
p.D258Y
c.772G>T
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