Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.Q466_L467delFs

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.Q466_L467delFs
c.1397_1400del4
Surrounding Variants
2 papers
NM_000503.6
p.R468K
c.1403G>A
1 paper
NM_000503.6
p.L465L
c.1395G>A
1 paper
NM_000503.6
p.E470*
c.1408G>T
1 paper
NM_000503.6
p.E470K
c.1408G>A
1 paper
NM_000503.6
p.I471insFs
c.1412_1413insA
1 paper
NM_000503.6
p.I471T
c.1412T>C
1 paper
NM_000503.6
p.R461fs
c.1381_1382fs
5 papers
NM_000503.6
p.R461delFs
c.1381delT
1 paper
NM_001288575.2
p.L352insFs
c.1054_1055insG
1 paper
NM_000503.6
p.R461fs
c.1381_1382fs
1 paper
NM_000503.6
p.L474delFs
c.1420_1421delAG
1 paper
NM_000503.6
p.A473_L474delFs
c.1418_1421del4
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