Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.A421P

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.A421P
c.1261G>C
Surrounding Variants
1 paper
NM_000503.6
p.L420delFs
c.1259delA
1 paper
NM_000503.6
p.L420fs
c.1258_1259fs
2 papers
NM_000503.6
p.C419delFs
c.1255delA
1 paper
NM_172060.4
p.L385_C386delFs
c.1155_1156delAT
2 papers
NM_000503.6
p.C419fs
c.1255_1256fs
1 paper
NM_000503.6
p.G423A
c.1268G>C
1 paper
NM_172060.4
p.L385fs
c.1153_1154fs
1 paper
NM_000503.6
p.N417Fs
c.1251delinsCCFs
1 paper
NM_000503.6
p.R425W
c.1273C>T
1 paper
NM_000503.6
p.V424insFs
c.1272dupA
1 paper
NM_000503.6
p.A416insFs
c.1248dupT
15 papers
NM_000503.6
p.G426S
c.1276G>A
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