Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.L397F

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.L397F
c.1189C>T
Surrounding Variants
1 paper
NM_022336.4
p.Q396ins0
c.1186_1188dupCAA
3 papers
NM_022336.4
p.L397H
c.1190T>A
6 papers
NM_022336.4
p.F398delFs
c.1193_1194delAA
1 paper
NM_022336.4
p.R400C
c.1198C>T
1 paper
NM_022336.4
p.M391T
c.1172T>C
3 papers
NM_022336.4
p.M391K
c.1172T>A
1 paper
NM_022336.4
p.S402S
c.1206C>T
10 papers
NM_022336.4
p.T403M
c.1208C>T
1 paper
NM_022336.4
p.G390delFs
c.1169delC
1 paper
NM_022336.4
p.G389_G390insFs
c.1167_1168insC
3 papers
NM_022336.4
p.G389A
c.1166G>C
2 papers
NM_022336.4
p.D399_A404del6
c.1195_1211del18
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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."