Varaico: Literature-Extracted Genetic Variants

Gene:EYA2
Variant:p.Y223_S230del0

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.Y223_S230del0
c.668_688del21
Surrounding Variants
1 paper
NM_005244.5
p.Y223_S230del8
c.667_689del24
1 paper
NM_005244.5
p.E235Q
c.703G>C
1 paper
NM_005244.5
p.D239N
c.715G>A
1 paper
NM_005244.5
p.A244A
c.732C>A
1 paper
NM_005244.5
p.D246N
c.736G>A
2 papers
NM_005244.5
p.G247R
c.739G>A
2 papers
NM_005244.5
p.G247R
c.739G>C
1 paper
NM_005244.5
p.G247_K254del0
c.740_760del21
1 paper
NM_005244.5
p.G247G
c.741G>A
1 paper
NM_005244.5
p.R250*
c.748C>T
2 papers
NM_005244.5
p.G251C
c.751G>T
1 paper
NM_005244.5
p.R252R
c.756G>A
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