Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.K566insFs

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
3 papers
NM_000503.6
p.K566insFs
c.1697dupA
Surrounding Variants
1 paper
NM_000503.6
p.K566fs
c.1696_1697fs
1 paper
NM_000503.6
p.K566Fs
c.1697_1698delinsTFs
1 paper
NM_000503.6
p.K566delFs
c.1697delT
3 papers
NM_000503.6
p.K566_H567Splc
c.1698+1G>T
3 papers
NM_000503.6
p.K566_H567Splc
c.1698+1G>A
1 paper
NM_000503.6
p.K566_H567Splc
c.1698+2T>C
1 paper
NM_000503.6
p.K566_H567Splc
c.1698+5G>C
1 paper
NM_000503.6
p.G563*
c.1687G>T
1 paper
NM_000503.6
p.Q562E
c.1684C>G
1 paper
NM_000503.6
p.E561K
c.1681G>A
3 papers
NM_000503.6
p.E560D
c.1680A>C
1 paper
NM_172060.4
p.E527G
c.1580A>G
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."