Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.G167insFs

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
2 papers
NM_000503.6
p.G167insFs
c.500_501insA
Surrounding Variants
1 paper
NM_000503.6
p.Y166insFs
c.498dupT
1 paper
NM_000503.6
p.G167_T168insFs
c.501_502insA
1 paper
NM_172060.4
p.G134G
c.402C>A
1 paper
NM_000503.6
p.G167fs
c.499_500fs
1 paper
NM_000503.6
p.S169_F170insFs
c.507_508ins4
1 paper
NM_000503.6
p.L164insFs
c.490dupC
1 paper
NM_000503.6
p.L164R
c.491T>G
1 paper
NM_000503.6
p.F170S
c.509T>C
1 paper
NM_000503.6
p.F163insFs
c.489dupT
1 paper
NM_000503.6
p.F163L
c.489T>G
1 paper
NM_000503.6
p.P173R
c.518C>G
1 paper
NM_000503.6
p.Q174*
c.520C>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."