Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.P352fs

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_000503.6
p.P352fs
c.1054_1055fs
Surrounding Variants
2 papers
NM_000503.6
p.P352insFs
c.1054_1055insG
2 papers
NM_000503.6
p.D351Y
c.1051G>T
2 papers
NM_000503.6
p.R350_D351Splc
c.1051-1G>C
3 papers
NM_000503.6
p.R350_D351Splc
c.1051-2A>G
1 paper
NM_000503.6
p.V356G
c.1067T>G
2 papers
NM_000503.6
p.R350_D351Splc
c.1051-12T>G
1 paper
NM_000503.6
p.G359fs
c.1075_1076fs
1 paper
NM_000503.6
p.G359fs
c.1075_1076fs
2 papers
NM_000503.6
p.G359Fs
c.1075_1077delinsATFs
12 papers
NM_000503.6
p.R361*
c.1081C>T
NM_172060.4
p.R328*
c.982C>T
5 papers
NM_000503.6
p.R361Q
c.1082G>A
1 paper
NM_000503.6
p.M362delFs
c.1084delT
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."