Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.L505R

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
2 papers
NM_000503.6
p.L505R
c.1514T>G
Surrounding Variants
2 papers
NM_000503.6
p.L505_I506insFs
c.1515_1516ins4
1 paper
NM_000503.6
p.I506insFs
c.1516_1517ins4
2 papers
NM_000503.6
p.Q504*
c.1510C>T
1 paper
NM_000503.6
p.T501_T503delFs
c.1501_1507del7
2 papers
NM_000503.6
p.A508V
c.1523C>T
2 papers
NM_172060.4
p.A475delFs
c.1425delT
2 papers
NM_172060.4
p.L466_V467delFs
c.1397_1400del4
NM_000503.6
p.L499_V500delFs
c.1496_1499del4
1 paper
NM_000503.6
p.A510V
c.1529C>T
2 papers
NM_000503.6
p.V500_T501insA
c.1498_1502ins3
1 paper
NM_172060.4
p.L466insFs
c.1397dupT
1 paper
NM_000503.6
p.L499delFs
c.1496delA
4 papers
NM_000503.6
p.L499*
c.1496T>G
NM_172060.4
p.L466*
c.1397T>G
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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."