Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.W374C

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
2 papers
NM_004100.5
p.W374C
c.1122G>T
Surrounding Variants
2 papers
NM_004100.5
p.W374C
c.1122G>C
3 papers
NM_004100.5
p.D375N
c.1123G>A
1 paper
NM_004100.5
p.D375G
c.1124A>G
1 paper
NM_004100.5
p.W374fs
c.1120_1121fs
5 papers
NM_004100.5
p.W374fs
c.1120_1121fs
1 paper
NM_004100.5
p.V373insFs
c.1118_1119ins4
2 papers
NM_004100.5
p.D377N
c.1129G>A
1 paper
NM_004100.5
p.V373_W374delFs
c.1118_1121del4
3 papers
NM_004100.5
p.V371M
c.1111G>A
7 papers
NM_004100.5
p.F372_V373insFs
c.1115_1118dup4
5 papers
NM_004100.5
p.R370H
c.1109G>A
4 papers
NM_004100.5
p.R370P
c.1109G>C
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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."