Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.L474delFs

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.L474delFs
c.1420_1421delAG
Surrounding Variants
1 paper
NM_000503.6
p.A473_L474delFs
c.1418_1421del4
1 paper
NM_001288575.2
p.L352insFs
c.1054_1055insG
2 papers
NM_000503.6
p.T475delFs
c.1425delG
1 paper
NM_000503.6
p.I471insFs
c.1412_1413insA
1 paper
NM_000503.6
p.I471T
c.1412T>C
1 paper
NM_000503.6
p.W478*
c.1433G>A
1 paper
NM_000503.6
p.W478*
c.1434G>A
2 papers
NM_000503.6
p.W478insFs
c.1434dupG
1 paper
NM_000503.6
p.E470*
c.1408G>T
1 paper
NM_000503.6
p.E470K
c.1408G>A
2 papers
NM_000503.6
p.R468K
c.1403G>A
2 papers
NM_000503.6
p.L481P
c.1442T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."