Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.N365fs

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.N365fs
c.1093_1094fs
Surrounding Variants
1 paper
NM_022336.4
p.N365insFs
c.1093_1094ins17
1 paper
NM_022336.4
p.E367*
c.1099G>T
1 paper
NM_022336.4
p.S366insFs
c.1098dupT
1 paper
NM_022336.4
p.T363_E367delFs
c.1087_1100del14
2 papers
NM_022336.4
p.K368_A369insC
c.1102_1106ins3
1 paper
NM_022336.4
p.T363fs
c.1087_1088fs
1 paper
NM_022336.4
p.T363insFs
c.1087_1088insGA
1 paper
NM_022336.4
p.A369P
c.1105G>C
1 paper
NM_022336.4
p.V370I
c.1108G>A
1 paper
NM_022336.4
p.V370G
c.1109T>G
79 papers
NM_022336.4
p.V370A
c.1109T>C
11 papers
NM_022336.4
p.R358Q
c.1073G>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."