Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.T7T

EYA1

407 papers

RefSeq Summary

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been a...

Pfam Domains

Hydrolaseaa 322–567UCSChaloacid dehalogenase-like hydrolase

Gene Aliases

HGNC Name

EYA transcriptional coactivator and phosphatase 1

HGNC Previous Symbol

BOR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000503.6
p.T7T
c.21C>G
Surrounding Variants
2 papers
NM_000503.6
p.P9L
c.26C>T
1 paper
NM_000503.6
p.M3I
c.9G>C
2 papers
NM_000503.6
p.R12C
c.34C>T
5 papers
NM_000503.6
p.R12H
c.35G>A
1 paper
NM_000503.6
p.R12_L13insFs
c.36_37insG
12 papers
NM_000503.6
p.R12delFs
c.35delC
1 paper
NM_000503.6
p.M1delFs
c.2delA
2 papers
NM_000503.6
p.M1T
c.2T>C
1 paper
NM_000503.6
p.M1K
c.2T>A
1 paper
NM_000503.6
p.M1V
c.1A>G
1 paper
NM_000503.6
p.M1delins
c.1delinsCTTC
1 paper
NM_000503.6
p.M1insFs
c.1_2ins4
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."