Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.N310delFs

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.N310delFs
c.929delT
Surrounding Variants
2 papers
NM_000503.6
p.R309K
c.926G>A
6 papers
NM_000503.6
p.R308*
c.922C>T
NM_172060.4
p.R275*
c.823C>T
1 paper
NM_000503.6
p.P313H
c.938C>A
3 papers
NM_000503.6
p.G307delFs
c.920delC
1 paper
NM_172060.4
p.G272R
c.814G>A
1 paper
NM_172060.4
p.P284R
c.851C>G
1 paper
NM_000503.6
p.P317delFs
c.950delG
3 papers
NM_000503.6
p.D318Y
c.952G>T
2 papers
NM_000503.6
p.D318N
c.952G>A
1 paper
NM_172060.4
p.P282_P284delFs
c.845_852del8
1 paper
NM_000503.6
p.S319F
c.956C>T
1 paper
NM_000503.6
p.S299_D300del2
c.895_899del6
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