Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.Q417*

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.Q417*
c.1249C>T
Surrounding Variants
3 papers
NM_022336.4
p.V416M
c.1246G>A
5 papers
NM_022336.4
p.I418T
c.1253T>C
6 papers
NM_022336.4
p.R420W
c.1258C>T
14 papers
NM_022336.4
p.R420Q
c.1259G>A
5 papers
NM_022336.4
p.T413P
c.1237A>C
1 paper
NM_022336.4
p.L412delFs
c.1234delG
1 paper
NM_022336.4
p.L412F
c.1234C>T
1 paper
NM_022336.4
p.P409_E410delFs
c.1226_1230del5
4 papers
NM_022336.4
p.V424M
c.1270G>A
1 paper
NM_022336.4
p.V424G
c.1271T>G
3 papers
NM_022336.4
p.P409L
c.1226C>T
1 paper
NM_022336.4
p.I408F
c.1222A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."