Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.P23delFs

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.P23delFs
c.69delG
Surrounding Variants
1 paper
NM_000503.6
p.P23_K24insFs
c.69_70insG
1 paper
NM_000503.6
p.P23H
c.68C>A
1 paper
NM_000503.6
p.P20L
c.59C>T
1 paper
NM_000503.6
p.P20A
c.58C>G
1 paper
NM_000503.6
p.P20insFs
c.58_59ins7
1 paper
NM_000503.6
p.H29Y
c.85C>T
1 paper
NM_000503.6
p.E18_S19insFs
c.54_55insT
1 paper
NM_000503.6
p.E18insFs
c.53_54insT
1 paper
NM_000503.6
p.I30V
c.88A>G
1 paper
NM_000503.6
p.S17G
c.49A>G
1 paper
NM_000503.6
p.S14delFs
c.40_41delCT
1 paper
NM_000503.6
p.N33I
c.98A>T
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