Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.R358*

EDAR

318 papers

RefSeq Summary

This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kap...

Pfam Domains

Death_EDARaa 358–431UCSCEDAR death domain

Gene Aliases

HGNC Name

ectodysplasin A receptor

HGNC Previous Symbols

ED3; DL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
18 papers
NM_022336.4
p.R358*
c.1072C>T
Surrounding Variants
11 papers
NM_022336.4
p.R358Q
c.1073G>A
1 paper
NM_022336.4
p.S357T
c.1070G>C
1 paper
NM_022336.4
p.E354del1
c.1060_1062delCTC
4 papers
NM_022336.4
p.E354*
c.1060G>T
1 paper
NM_022336.4
p.T363fs
c.1087_1088fs
1 paper
NM_022336.4
p.T363insFs
c.1087_1088insGA
6 papers
NM_022336.4
p.C352C
c.1056C>T
1 paper
NM_022336.4
p.F350_D351delFs
c.1049_1052del4
1 paper
NM_022336.4
p.D351fs
c.1051_1052fs
1 paper
NM_022336.4
p.N365insFs
c.1093_1094ins17
1 paper
NM_022336.4
p.N365fs
c.1093_1094fs
1 paper
NM_022336.4
p.P349L
c.1046C>T
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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."