Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.L152fs

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.L152fs
c.454_455fs
Surrounding Variants
1 paper
NM_000503.6
p.G151fs
c.451_452fs
1 paper
NM_000503.6
p.G151A
c.452G>C
2 papers
NM_000503.6
p.G150_G151delFs
c.450_451delCA
1 paper
NM_000503.6
p.L152delFs
c.456delC
1 paper
NM_172060.4
p.G117fs
c.349_350fs
1 paper
NM_172060.4
p.E116delFs
c.348delT
7 papers
NM_000503.6
p.Q156*
c.466C>T
2 papers
NM_000503.6
p.K147K
c.441G>A
1 paper
NM_000503.6
p.S157*
c.470C>G
1 paper
NM_000503.6
p.S157*
c.470C>A
1 paper
NM_000503.6
p.P158S
c.472C>T
1 paper
NM_172060.4
p.G107delFs
c.321delA
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