Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.T447T

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.T447T
c.1341C>G
Surrounding Variants
1 paper
NM_000503.6
p.T447A
c.1339A>G
1 paper
NM_000503.6
p.N446_K449del0
c.1338_1346del9
1 paper
NM_000503.6
p.N450fs
c.1348_1349fs
1 paper
NM_000503.6
p.Y445C
c.1334A>G
1 paper
NM_000503.6
p.N450Fs
c.1350delinsCCFs
2 papers
NM_000503.6
p.I444insFs
c.1330_1331dupAT
NM_172060.4
p.I411insFs
c.1231_1232dupAT
1 paper
NM_000503.6
p.E443_I444delFs
c.1329_1330delTC
1 paper
NM_000503.6
p.N450_N451Fs
c.1350_1353delinsCAGACAFs
1 paper
NM_000503.6
p.N450_N451delFs
c.1350_1353del4
2 papers
NM_000503.6
p.N450_N451del2
c.1348_1352del6
2 papers
NM_172060.4
p.K409delFs
c.1226_1227delTT
NM_000503.6
p.K442delFs
c.1325_1326delTT
1 paper
NM_000503.6
p.V452_G453insFs
c.1356_1357ins4
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