Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.L450_K451del2

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.L450_K451del2
c.1348_1352del6
Surrounding Variants
2 papers
NM_000503.6
p.L486insFs
c.1456_1457insA
1 paper
NM_000503.6
p.L486insFs
c.1457_1458insA
5 papers
NM_000503.6
p.S487P
c.1459T>C
5 papers
NM_000503.6
p.S487L
c.1460C>T
1 paper
NM_000503.6
p.S487*
c.1460C>A
1 paper
NM_000503.6
p.L486_S487delFs
c.1458_1459delAG
2 papers
NM_000503.6
p.L481P
c.1442T>C
2 papers
NM_000503.6
p.W478insFs
c.1434dupG
1 paper
NM_000503.6
p.W478*
c.1434G>A
1 paper
NM_000503.6
p.W478*
c.1433G>A
1 paper
NM_000503.6
p.R492fs
c.1474_1475fs
1 paper
NM_000503.6
p.R492W
c.1474C>T
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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."