Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.L592fs

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.L592fs
c.1774_1775fs
Surrounding Variants
1 paper
NM_000503.6
p.L592delFs
c.1774delG
2 papers
NM_000503.6
p.Y591*
c.1773C>G
1 paper
NM_000503.6
p.Y591*
c.1773C>A
2 papers
NM_172060.4
p.*560Q
c.1678T>C
2 papers
NM_000503.6
p.*593K
c.1777T>A
1 paper
NM_000503.6
p.E590fs
c.1768_1769fs
1 paper
NM_000503.6
p.*593L
c.1778A>T
2 papers
NM_000503.6
p.*593Y
c.1779A>T
2 papers
NM_000503.6
p.E590delFs
c.1768delC
2 papers
NM_000503.6
p.E590fs
c.1768_1769fs
2 papers
NM_000503.6
p.L589insFs
c.1766dupT
1 paper
NM_172060.4
p.A553del1
c.1657_1659delGGC
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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."