Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.V496fs

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.V496fs
c.1486_1487fs
Surrounding Variants
1 paper
NM_000503.6
p.C495Y
c.1484G>A
2 papers
NM_000503.6
p.V496delFs
c.1487_1488delCA
1 paper
NM_000503.6
p.N494S
c.1481A>G
1 paper
NM_000503.6
p.N494insFs
c.1480_1481insAG
3 papers
NM_000503.6
p.I498insFs
c.1493_1494insAT
1 paper
NM_000503.6
p.I498fs
c.1492_1493fs
1 paper
NM_172060.4
p.R459_T460delins
c.1377_1378delinsAT
4 papers
NM_000503.6
p.L499*
c.1496T>G
NM_172060.4
p.L466*
c.1397T>G
4 papers
NM_000503.6
p.L499*
c.1496T>A
NM_172060.4
p.L466*
c.1397T>A
3 papers
NM_000503.6
p.R492P
c.1475G>C
NM_172060.4
p.R459P
c.1376G>C
1 paper
NM_172060.4
p.L466insFs
c.1397dupT
1 paper
NM_000503.6
p.L499delFs
c.1496delA
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