Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.G382S

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
13 papers
NM_022336.4
p.G382S
c.1144G>A
Surrounding Variants
1 paper
NM_022336.4
p.L383P
c.1148T>C
1 paper
NM_022336.4
p.G382_L383delFs
c.1144_1147del4
6 papers
NM_022336.4
p.S380R
c.1140C>G
6 papers
NM_022336.4
p.S380R
c.1140C>A
7 papers
NM_022336.4
p.S380R
c.1138A>C
2 papers
NM_022336.4
p.G382_L383delFs
c.1146_1149del4
1 paper
NM_022336.4
p.E379Q
c.1135G>C
14 papers
NM_022336.4
p.E379K
c.1135G>A
4 papers
NM_022336.4
p.A378V
c.1133C>T
1 paper
NM_022336.4
p.A378G
c.1133C>G
1 paper
NM_022336.4
p.A378D
c.1133C>A
1 paper
NM_022336.4
p.D386H
c.1156G>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."