Varaico: Literature-Extracted Genetic Variants

Gene:EYA2
Variant:p.V498E

EYA2

71 papers

RefSeq Summary

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can a...

Pfam Domains

Hydrolaseaa 268–514UCSChaloacid dehalogenase-like hydrolase

Gene Aliases

HGNC Name

EYA transcriptional coactivator and phosphatase 2

HGNC Alias Symbol

EAB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005244.5
p.V498E
c.1493T>A
Surrounding Variants
1 paper
NM_005244.5
p.V498L
c.1492G>C
1 paper
NM_005244.5
p.V498L
c.1492G>T
1 paper
NM_005244.5
p.I500_G501insA
c.1498_1502ins3
1 paper
NM_005244.5
p.G501S
c.1501G>A
1 paper
NM_005244.5
p.E505_E506insFs
c.1515_1516ins4
1 paper
NM_005244.5
p.E506insFs
c.1516_1517ins4
3 papers
NM_005244.5
p.E507Q
c.1519G>C
1 paper
NM_005244.5
p.A510E
c.1529C>A
1 paper
NM_005244.5
p.A510V
c.1529C>T
1 paper
NM_005244.5
p.G479Splc
c.1436-1G>A
1 paper
NM_005244.5
p.G479Splc
c.1436-6G>A
1 paper
NM_005244.5
p.G479Splc
c.1436-46G>A
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