Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.G382_L383delFs

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
2 papers
NM_022336.4
p.G382_L383delFs
c.1146_1149del4
Surrounding Variants
1 paper
NM_022336.4
p.L383P
c.1148T>C
1 paper
NM_022336.4
p.G382_L383delFs
c.1144_1147del4
1 paper
NM_022336.4
p.D386H
c.1156G>C
13 papers
NM_022336.4
p.G382S
c.1144G>A
6 papers
NM_022336.4
p.S380R
c.1140C>G
6 papers
NM_022336.4
p.S380R
c.1140C>A
1 paper
NM_022336.4
p.E387D
c.1161G>T
1 paper
NM_022336.4
p.E387D
c.1161G>C
7 papers
NM_022336.4
p.S380R
c.1138A>C
3 papers
NM_022336.4
p.I388T
c.1163T>C
1 paper
NM_022336.4
p.E379Q
c.1135G>C
14 papers
NM_022336.4
p.E379K
c.1135G>A
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