Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.G82_Y84del0

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
1 paper
NM_022336.4
p.G82_Y84del0
c.244_252del9
Surrounding Variants
1 paper
NM_022336.4
p.Y84delFs
c.252delG
1 paper
NM_022336.4
p.Y84_Q85insC
c.250_254ins3
1 paper
NM_022336.4
p.I86L
c.256A>T
1 paper
NM_022336.4
p.I86L
c.256A>C
8 papers
NM_022336.4
p.C87R
c.259T>C
2 papers
NM_022336.4
p.G82E
c.245G>A
2 papers
NM_022336.4
p.R89C
c.265C>T
1 paper
NM_022336.4
p.R89L
c.266G>T
15 papers
NM_022336.4
p.R89H
c.266G>A
2 papers
NM_022336.4
p.C93ins1
c.277_278insGCC
1 paper
NM_022336.4
p.P75Q
c.224C>A
1 paper
NM_022336.4
p.G95D
c.284G>A
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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."