Varaico: Literature-Extracted Genetic Variants

Gene:EYA2
Variant:p.G403A

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.G403A
c.1208G>C
Surrounding Variants
1 paper
NM_005244.5
p.G400Splc
c.1199-2A>T
1 paper
NM_005244.5
p.E408*
c.1222G>T
1 paper
NM_005244.5
p.L423F
c.1267C>T
1 paper
NM_005244.5
p.R438Q
c.1313G>A
1 paper
NM_005244.5
p.R438P
c.1313G>C
1 paper
NM_005244.5
p.V446F
c.1336G>T
1 paper
NM_005244.5
p.L451R
c.1352T>G
1 paper
NM_005244.5
p.V458F
c.1372G>T
1 paper
NM_005244.5
p.V458G
c.1373T>G
1 paper
NM_005244.5
p.L459P
c.1376T>C
1 paper
NM_005244.5
p.G462S
c.1384G>A
1 paper
NM_005244.5
p.L463delFs
c.1388_1389delTG
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