Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.E535fs

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.E535fs
c.1603_1604fs
Surrounding Variants
2 papers
NM_000503.6
p.E535_S536delFs
c.1603_1607del5
1 paper
NM_000503.6
p.C537R
c.1609T>C
1 paper
NM_000503.6
p.G533delFs
c.1598delC
6 papers
NM_000503.6
p.G533R
c.1597G>C
6 papers
NM_000503.6
p.G533Splc
c.1598-1G>A
1 paper
NM_000503.6
p.G533Splc
c.1598-2A>G
4 papers
NM_000503.6
p.G533Splc
c.1598-2A>C
1 paper
NM_000503.6
p.E539*
c.1615G>T
1 paper
NM_000503.6
p.R540_I541insFs
c.1620_1621insT
8 papers
NM_000503.6
p.Q543*
c.1627C>T
4 papers
NM_000503.6
p.I541_I542insFs
c.1623_1626dup4
1 paper
NM_000503.6
p.R547*
c.1639A>T
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