Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.K409delFs

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_172060.4
p.K409delFs
c.1226_1227delTT
NM_000503.6
p.K442delFs
c.1325_1326delTT
Surrounding Variants
1 paper
NM_000503.6
p.E443_I444delFs
c.1329_1330delTC
2 papers
NM_000503.6
p.I444insFs
c.1330_1331dupAT
NM_172060.4
p.I411insFs
c.1231_1232dupAT
1 paper
NM_000503.6
p.Y445C
c.1334A>G
2 papers
NM_000503.6
p.R439_R440insFs
c.1315_1318dup4
NM_172060.4
p.R406_R407insFs
c.1216_1219dup4
18 papers
NM_000503.6
p.R440Q
c.1319G>A
NM_172060.4
p.R407Q
c.1220G>A
2 papers
NM_000503.6
p.R440W
c.1318C>T
1 paper
NM_000503.6
p.R439delFs
c.1315delT
1 paper
NM_000503.6
p.T447A
c.1339A>G
1 paper
NM_000503.6
p.T447T
c.1341C>G
1 paper
NM_000503.6
p.Y438C
c.1313A>G
2 papers
NM_000503.6
p.R437H
c.1310G>A
4 papers
NM_000503.6
p.R437C
c.1309C>T
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