Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.Y527N

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
4 papers
NM_000503.6
p.Y527N
c.1579T>A
Surrounding Variants
2 papers
NM_000503.6
p.Y527C
c.1580A>G
NM_172060.4
p.Y494C
c.1481A>G
1 paper
NM_000503.6
p.A529E
c.1586C>A
1 paper
NM_000503.6
p.E524E
c.1572A>G
1 paper
NM_000503.6
p.E524insFs
c.1570_1571insTA
1 paper
NM_000503.6
p.I523T
c.1568T>C
2 papers
NM_000503.6
p.K531*
c.1591A>T
1 paper
NM_000503.6
p.P522delFs
c.1565delG
1 paper
NM_000503.6
p.F521L
c.1563T>G
1 paper
NM_000503.6
p.F521L
c.1563T>A
1 paper
NM_172060.4
p.I499delFs
c.1496delA
1 paper
NM_000503.6
p.F521L
c.1561T>C
2 papers
NM_000503.6
p.G533R
c.1597G>C
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