Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.Y182F

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.Y182F
c.545A>T
Surrounding Variants
1 paper
NM_000503.6
p.S181S
c.543C>T
1 paper
NM_172060.4
p.Q150_M151delFs
c.450_451delTC
2 papers
NM_000503.6
p.Q185*
c.553C>T
1 paper
NM_000503.6
p.G186S
c.556G>A
2 papers
NM_000503.6
p.A178G
c.533C>G
1 paper
NM_000503.6
p.A178delFs
c.532delC
1 paper
NM_000503.6
p.G186Splc
c.556+2T>G
1 paper
NM_000503.6
p.A178T
c.532G>A
1 paper
NM_000503.6
p.Q177R
c.530A>G
4 papers
NM_000503.6
p.Q177*
c.529C>T
NM_172060.4
p.Q144*
c.430C>T
2 papers
NM_000503.6
p.P175delFs
c.525delA
1 paper
NM_000503.6
p.G176fs
c.526_527fs
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."