Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.I519V

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
13 papers
NM_000503.6
p.I519V
c.1555A>G
Surrounding Variants
1 paper
NM_000503.6
p.I519F
c.1555A>T
1 paper
NM_000503.6
p.F521L
c.1561T>C
2 papers
NM_000503.6
p.G516_L517insFs
c.1548_1549insC
1 paper
NM_000503.6
p.F521L
c.1563T>G
1 paper
NM_000503.6
p.F521L
c.1563T>A
1 paper
NM_000503.6
p.G516E
c.1547G>A
1 paper
NM_000503.6
p.Y515*
c.1545T>G
1 paper
NM_000503.6
p.Y515*
c.1545T>A
1 paper
NM_000503.6
p.P522delFs
c.1565delG
1 paper
NM_000503.6
p.L514del1
c.1540_1541delCAG
1 paper
NM_000503.6
p.I523T
c.1568T>C
1 paper
NM_172060.4
p.L481P
c.1442T>C
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