Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.A435V

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.A435V
c.1304C>T
Surrounding Variants
5 papers
NM_022336.4
p.W434C
c.1302G>T
4 papers
NM_022336.4
p.W434C
c.1302G>C
3 papers
NM_022336.4
p.W434*
c.1302G>A
1 paper
NM_022336.4
p.W434insFs
c.1301_1302insA
2 papers
NM_022336.4
p.W434*
c.1301G>A
1 paper
NM_022336.4
p.W434G
c.1300T>G
4 papers
NM_022336.4
p.W434R
c.1300T>C
4 papers
NM_022336.4
p.W434R
c.1300T>A
1 paper
NM_022336.4
p.L432P
c.1295T>C
1 paper
NM_022336.4
p.I431R
c.1292T>G
1 paper
NM_022336.4
p.A441_S442ins5
c.1321_1325ins15
1 paper
NM_022336.4
p.S442P
c.1324T>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."