Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.D429G

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
6 papers
NM_000503.6
p.D429G
c.1286A>G
NM_172060.4
p.D396G
c.1187A>G
Surrounding Variants
1 paper
NM_000503.6
p.D429E
c.1287C>G
1 paper
NM_000503.6
p.D429E
c.1287C>A
2 papers
NM_000503.6
p.W430*
c.1289G>A
1 paper
NM_000503.6
p.W430*
c.1290G>A
1 paper
NM_000503.6
p.G427D
c.1280G>A
5 papers
NM_000503.6
p.G426G
c.1278C>T
15 papers
NM_000503.6
p.G426S
c.1276G>A
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.G423A
c.1268G>C
4 papers
NM_000503.6
p.R437C
c.1309C>T
1 paper
NM_000503.6
p.R437S
c.1309C>A
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