Varaico: Literature-Extracted Genetic Variants

Gene:EDAR

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
1–12 of 290 variants
79 papers
NM_022336.4
p.V370A
c.1109T>C
18 papers
NM_022336.4
p.R358*
c.1072C>T
15 papers
NM_022336.4
p.R89H
c.266G>A
14 papers
NM_022336.4
p.E379K
c.1135G>A
14 papers
NM_022336.4
p.R420Q
c.1259G>A
13 papers
NM_022336.4
p.G382S
c.1144G>A
11 papers
NM_022336.4
p.R358Q
c.1073G>A
10 papers
NM_022336.4
p.T403M
c.1208C>T
8 papers
NM_022336.4
p.C87R
c.259T>C
8 papers
NM_022336.4
p.R375H
c.1124G>A
7 papers
NM_022336.4
p.V17_V18Splc
c.51+1G>A
7 papers
NM_022336.4
p.R25*
c.73C>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."