Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.E527G

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_172060.4
p.E527G
c.1580A>G
Surrounding Variants
3 papers
NM_000503.6
p.E560D
c.1680A>C
1 paper
NM_000503.6
p.E561K
c.1681G>A
1 paper
NM_000503.6
p.Q562E
c.1684C>G
1 paper
NM_000503.6
p.G563*
c.1687G>T
2 papers
NM_000503.6
p.D556_G557insFs
c.1668_1669insT
1 paper
NM_000503.6
p.D556fs
c.1666_1667fs
1 paper
NM_000503.6
p.D556insFs
c.1667_1668insT
1 paper
NM_000503.6
p.G555R
c.1663G>C
1 paper
NM_000503.6
p.G555R
c.1663G>A
1 paper
NM_000503.6
p.K566fs
c.1696_1697fs
3 papers
NM_000503.6
p.K566insFs
c.1697dupA
1 paper
NM_000503.6
p.K566Fs
c.1697_1698delinsTFs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."