Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.P360T

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
3 papers
NM_004100.5
p.P360T
c.1078C>A
Surrounding Variants
1 paper
NM_004100.5
p.P362L
c.1085C>T
2 papers
NM_004100.5
p.R356Q
c.1067G>A
1 paper
NM_004100.5
p.R356G
c.1066C>G
1 paper
NM_004100.5
p.R354K
c.1061G>A
1 paper
NM_004100.5
p.R354delFs
c.1060delA
1 paper
NM_004100.5
p.D367N
c.1099G>A
1 paper
NM_004100.5
p.R352fs
c.1054_1055fs
5 papers
NM_004100.5
p.R352fs
c.1054_1055fs
4 papers
NM_004100.5
p.E369D
c.1107G>C
4 papers
NM_004100.5
p.E369D
c.1107G>T
1 paper
NM_004100.5
p.E369_R370Splc
c.1107+1G>A
9 papers
NM_004100.5
p.K350insFs
c.1048_1049dupAA
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."