Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.R361*

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
12 papers
NM_000503.6
p.R361*
c.1081C>T
NM_172060.4
p.R328*
c.982C>T
Surrounding Variants
5 papers
NM_000503.6
p.R361Q
c.1082G>A
1 paper
NM_000503.6
p.M362delFs
c.1084delT
1 paper
NM_000503.6
p.G359fs
c.1075_1076fs
2 papers
NM_000503.6
p.G359Fs
c.1075_1077delinsATFs
4 papers
NM_000503.6
p.E363K
c.1087G>A
1 paper
NM_000503.6
p.G359fs
c.1075_1076fs
1 paper
NM_172060.4
p.E330V
c.989A>T
1 paper
NM_000503.6
p.M365V
c.1093A>G
1 paper
NM_000503.6
p.V356G
c.1067T>G
2 papers
NM_000503.6
p.P352insFs
c.1054_1055insG
1 paper
NM_000503.6
p.P352fs
c.1054_1055fs
2 papers
NM_000503.6
p.D351Y
c.1051G>T
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."