Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.D378delins

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.D378delins
c.1133delinsG
Surrounding Variants
3 papers
NM_000503.6
p.E380*
c.1138G>T
NM_172060.4
p.E347*
c.1039G>T
1 paper
NM_000503.6
p.E380K
c.1138G>A
2 papers
NM_000503.6
p.E380_E381Splc
c.1140+1G>T
7 papers
NM_000503.6
p.E380_E381Splc
c.1140+1G>A
2 papers
NM_000503.6
p.L374delFs
c.1122delT
1 paper
NM_000503.6
p.E380_E381Splc
c.1140+4A>G
2 papers
NM_000503.6
p.H373delFs
c.1117_1118delTG
2 papers
NM_000503.6
p.H373Y
c.1117C>T
1 paper
NM_000503.6
p.M365V
c.1093A>G
1 paper
NM_172060.4
p.E330V
c.989A>T
4 papers
NM_000503.6
p.E363K
c.1087G>A
1 paper
NM_000503.6
p.M362delFs
c.1084delT
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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."