Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.L465L

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.L465L
c.1395G>A
Surrounding Variants
1 paper
NM_000503.6
p.Q466_L467delFs
c.1397_1400del4
2 papers
NM_000503.6
p.R468K
c.1403G>A
1 paper
NM_000503.6
p.R461fs
c.1381_1382fs
1 paper
NM_000503.6
p.E470*
c.1408G>T
1 paper
NM_000503.6
p.E470K
c.1408G>A
5 papers
NM_000503.6
p.R461delFs
c.1381delT
1 paper
NM_000503.6
p.R461fs
c.1381_1382fs
1 paper
NM_000503.6
p.I471insFs
c.1412_1413insA
1 paper
NM_000503.6
p.I471T
c.1412T>C
2 papers
NM_000503.6
p.K460*
c.1378A>T
2 papers
NM_000503.6
p.A459_K460delins
c.1377_1378delinsAT
2 papers
NM_000503.6
p.P458A
c.1372C>G
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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."