Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.K548insFs

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.K548insFs
c.1643_1644dupAA
Surrounding Variants
1 paper
NM_000503.6
p.K548delFs
c.1644delT
3 papers
NM_000503.6
p.R547_V549delFs
c.1641_1645del5
NM_172060.4
p.R514_V516delFs
c.1542_1546del5
3 papers
NM_000503.6
p.V550A
c.1649T>C
1 paper
NM_000503.6
p.V550V
c.1650G>A
1 paper
NM_000503.6
p.R547*
c.1639A>T
3 papers
NM_000503.6
p.R547G
c.1639A>G
1 paper
NM_000503.6
p.Y551insFs
c.1652_1653insT
4 papers
NM_000503.6
p.Y551*
c.1653T>G
NM_172060.4
p.Y518*
c.1554T>G
4 papers
NM_000503.6
p.Y551*
c.1653T>A
NM_172060.4
p.Y518*
c.1554T>A
4 papers
NM_000503.6
p.V552V
c.1656T>C
2 papers
NM_000503.6
p.V552insFs
c.1655dupT
2 papers
NM_000503.6
p.V553del1
c.1657_1658delAAC
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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."