Varaico: Literature-Extracted Genetic Variants

Gene:EYA2
Variant:p.A42S

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.A42S
c.124G>T
Surrounding Variants
1 paper
NM_005244.5
p.A42D
c.125C>A
1 paper
NM_005244.5
p.S41L
c.122C>T
1 paper
NM_005244.5
p.P55L
c.164C>T
1 paper
NM_005244.5
p.S63Y
c.188C>A
2 papers
NM_005244.5
p.Y69*
c.207C>A
2 papers
NM_005244.5
p.Y69*
c.207C>G
1 paper
NM_005244.5
p.T72K
c.215C>A
1 paper
NM_005244.5
p.T72M
c.215C>T
1 paper
NM_005244.5
p.Y74C
c.221A>G
1 paper
NM_005244.5
p.S75_G77delFs
c.223_230del8
1 paper
NM_005244.5
p.P83S
c.247C>T
1 paper
NM_005244.5
p.A93T
c.277G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."