Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.R261delFs

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_172060.4
p.R261delFs
c.783delT
Surrounding Variants
2 papers
NM_000503.6
p.L295insFs
c.884_885ins8
1 paper
NM_000503.6
p.L295S
c.884T>C
1 paper
NM_000503.6
p.L295_R296insFs
c.885_886ins8
1 paper
NM_000503.6
p.R294Q
c.881G>A
10 papers
NM_000503.6
p.R294*
c.880C>T
1 paper
NM_000503.6
p.R296H
c.887G>A
8 papers
NM_000503.6
p.R297*
c.889C>T
NM_172060.4
p.R264*
c.790C>T
1 paper
NM_000503.6
p.S292insFs
c.875dupC
1 paper
NM_000503.6
p.R297Q
c.890G>A
1 paper
NM_000503.6
p.S292insFs
c.874_875insTG
1 paper
NM_000503.6
p.D291_S292insFs
c.873_874insTG
1 paper
NM_000503.6
p.D289fs
c.865_866fs
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