Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.E322_R323Splc

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.E322_R323Splc
c.967-2A>G
Surrounding Variants
1 paper
NM_000503.6
p.E322_R323Splc
c.967-1G>C
6 papers
NM_000503.6
p.E322_R323Splc
c.967-1G>A
5 papers
NM_000503.6
p.R323*
c.967A>T
1 paper
NM_000503.6
p.R323K
c.968G>A
1 paper
NM_000503.6
p.V324A
c.971T>C
1 paper
NM_000503.6
p.V324_F325insFs
c.972_973dupGT
2 papers
NM_000503.6
p.I326N
c.977T>A
2 papers
NM_000503.6
p.W327G
c.979T>G
2 papers
NM_000503.6
p.W327R
c.979T>C
1 paper
NM_000503.6
p.W327R
c.979T>A
1 paper
NM_000503.6
p.D328H
c.982G>C
2 papers
NM_000503.6
p.D328N
c.982G>A
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