Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.D301N

EYA4

250 papers

RefSeq Summary

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for...

Pfam Domains

Hydrolaseaa 375–621UCSChaloacid dehalogenase-like hydrolase

Gene Aliases

HGNC Name

EYA transcriptional coactivator and phosphatase 4

HGNC Previous Symbols

DFNA10; CMD1J

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004100.5
p.D301N
c.901G>A
Surrounding Variants
2 papers
NM_004100.5
p.A300D
c.899C>A
2 papers
NM_004100.5
p.T299P
c.895A>C
4 papers
NM_004100.5
p.P304delFs
c.910delC
1 paper
NM_004100.5
p.T299_A300del2
c.895_899del6
1 paper
NM_004100.5
p.P304T
c.910C>A
1 paper
NM_004100.5
p.P304fs
c.910_911fs
2 papers
NM_004100.5
p.S305fs
c.913_914fs
1 paper
NM_004100.5
p.S296L
c.887C>T
1 paper
NM_004100.5
p.S296insFs
c.887dupC
1 paper
NM_004100.5
p.T295_S296insFs
c.885_886ins8
1 paper
NM_004100.5
p.T295insFs
c.884_885ins8
1 paper
NM_004100.5
p.T295I
c.884C>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."