Varaico: Literature-Extracted Genetic Variants

Gene:EYA2
Variant:p.P188L

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
4 papers
NM_005244.5
p.P188L
c.563C>T
Surrounding Variants
1 paper
NM_005244.5
p.V187I
c.559G>A
1 paper
NM_005244.5
p.N183Y
c.547A>T
1 paper
NM_005244.5
p.S195L
c.584C>T
1 paper
NM_005244.5
p.L197P
c.590T>C
1 paper
NM_005244.5
p.Q176*
c.526C>T
1 paper
NM_005244.5
p.Q176fs
c.526_527fs
1 paper
NM_005244.5
p.P175L
c.524C>T
1 paper
NM_005244.5
p.S172S
c.516C>T
1 paper
NM_005244.5
p.F169S
c.506T>C
1 paper
NM_005244.5
p.P167_G168insFs
c.501_502insA
1 paper
NM_005244.5
p.P167insFs
c.500_501insA
1 paper
NM_005244.5
p.S216F
c.647C>T
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