Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.R25*

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
7 papers
NM_022336.4
p.R25*
c.73C>T
Surrounding Variants
1 paper
NM_022336.4
p.A24V
c.71C>T
4 papers
NM_022336.4
p.A24D
c.71C>A
1 paper
NM_022336.4
p.A26S
c.76G>T
7 papers
NM_022336.4
p.A26V
c.77C>T
1 paper
NM_022336.4
p.Y28_S29insFs
c.84_85insC
1 paper
NM_022336.4
p.Y28delFs
c.84delG
1 paper
NM_022336.4
p.S29fs
c.85_86fs
2 papers
NM_022336.4
p.S19S
c.57T>A
1 paper
NM_022336.4
p.S19F
c.56C>T
2 papers
NM_022336.4
p.V17_V18Splc
c.52-1G>A
3 papers
NM_022336.4
p.V17_V18Splc
c.52-2A>G
1 paper
NM_022336.4
p.E35K
c.103G>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."