Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.S343C

EYA1

407 papers

RefSeq Summary

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been a...

Pfam Domains

Hydrolaseaa 322–567UCSChaloacid dehalogenase-like hydrolase

Gene Aliases

HGNC Name

EYA transcriptional coactivator and phosphatase 1

HGNC Previous Symbol

BOR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000503.6
p.S343C
c.1028C>G
Surrounding Variants
1 paper
NM_000503.6
p.S343delFs
c.1029delG
1 paper
NM_000503.6
p.Y344fs
c.1030_1031fs
1 paper
NM_000503.6
p.L340delFs
c.1018_1019delAG
1 paper
NM_000503.6
p.N346S
c.1037A>G
1 paper
NM_000503.6
p.L340fs
c.1018_1019fs
1 paper
NM_000503.6
p.S338_L339delFs
c.1013_1016del4
1 paper
NM_000503.6
p.R347*
c.1039A>T
1 paper
NM_000503.6
p.Y348*
c.1044T>G
1 paper
NM_000503.6
p.Y348*
c.1044T>A
1 paper
NM_000503.6
p.G349W
c.1045G>T
1 paper
NM_000503.6
p.F336insFs
c.1007_1008insC
8 papers
NM_000503.6
p.R350_D351Splc
c.1050+1G>T
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