Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.S284*

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.S284*
c.851C>A
Surrounding Variants
2 papers
NM_000503.6
p.S284*
c.851C>G
2 papers
NM_000503.6
p.S282_S284delFs
c.845_852del8
1 paper
NM_000503.6
p.S282fs
c.844_845fs
1 paper
NM_000503.6
p.P286delFs
c.858delG
1 paper
NM_000503.6
p.H281delFs
c.841delG
1 paper
NM_000503.6
p.H281D
c.841C>G
1 paper
NM_000503.6
p.K288fs
c.862_863fs
2 papers
NM_000503.6
p.D289Y
c.865G>T
1 paper
NM_000503.6
p.T279K
c.836C>A
1 paper
NM_000503.6
p.D289fs
c.865_866fs
1 paper
NM_000503.6
p.D289delFs
c.866delT
2 papers
NM_000503.6
p.K288_D289delFs
c.863_866del4
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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."