Varaico: Literature-Extracted Genetic Variants

Gene:EYA2
Variant:p.R386Q

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
2 papers
NM_005244.5
p.R386Q
c.1157G>A
Surrounding Variants
1 paper
NM_005244.5
p.R383H
c.1148G>A
1 paper
NM_005244.5
p.T393I
c.1178C>T
1 paper
NM_005244.5
p.D375G
c.1124A>G
1 paper
NM_005244.5
p.V374M
c.1120G>A
1 paper
NM_005244.5
p.G400E
c.1199G>A
1 paper
NM_005244.5
p.G372S
c.1114G>A
1 paper
NM_005244.5
p.V370M
c.1108G>A
1 paper
NM_005244.5
p.V370L
c.1108G>C
1 paper
NM_005244.5
p.V370L
c.1108G>T
1 paper
NM_005244.5
p.S358L
c.1073C>T
1 paper
NM_005244.5
p.V333I
c.997G>A
1 paper
NM_005244.5
p.G400Splc
c.1199-2A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."