Varaico: Literature-Extracted Genetic Variants

Gene:EYA4
Variant:p.F326L

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
12 papers
NM_004100.5
p.F326L
c.976T>C
NM_172103.4
p.F303L
c.907T>C
Surrounding Variants
12 papers
NM_004100.5
p.F326L
c.978C>A
NM_172103.4
p.F303L
c.909C>A
13 papers
NM_004100.5
p.F326L
c.978C>G
NM_172103.4
p.F303L
c.909C>G
3 papers
NM_004100.5
p.D327N
c.979G>A
1 paper
NM_004100.5
p.G324Splc
c.971-3T>C
3 papers
NM_004100.5
p.M329I
c.987G>A
3 papers
NM_004100.5
p.M329I
c.987G>C
3 papers
NM_004100.5
p.M329I
c.987G>T
5 papers
NM_004100.5
p.Q330*
c.988C>T
1 paper
NM_004100.5
p.S331fs
c.991_992fs
1 paper
NM_004100.5
p.P332L
c.995C>T
1 paper
NM_004100.5
p.L339F
c.1015C>T
8 papers
NM_004100.5
p.R342_T343insFs
c.1026_1027dupAA
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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."