Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.A411A

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
4 papers
NM_000503.6
p.A411A
c.1233T>C
Surrounding Variants
1 paper
NM_000503.6
p.A411G
c.1232C>G
1 paper
NM_000503.6
p.A412insFs
c.1236dupA
1 paper
NM_000503.6
p.P410L
c.1229C>T
1 paper
NM_000503.6
p.T414T
c.1242C>G
2 papers
NM_000503.6
p.T406_D407insFs
c.1216_1219dup4
1 paper
NM_000503.6
p.A416insFs
c.1248dupT
1 paper
NM_000503.6
p.N417Fs
c.1251delinsCCFs
1 paper
NM_172060.4
p.G372R
c.1114G>C
1 paper
NM_172060.4
p.G372R
c.1114G>A
1 paper
NM_172060.4
p.L385fs
c.1153_1154fs
2 papers
NM_000503.6
p.C419fs
c.1255_1256fs
2 papers
NM_000503.6
p.C419delFs
c.1255delA
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