Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.L43fs

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.L43fs
c.127_128fs
Surrounding Variants
6 papers
NM_022336.4
p.G42delFs
c.126delC
1 paper
NM_022336.4
p.T40S
c.119C>G
1 paper
NM_022336.4
p.C44_Q45delFs
c.131_134del4
1 paper
NM_022336.4
p.C47S
c.140G>C
4 papers
NM_022336.4
p.C47Y
c.140G>A
1 paper
NM_022336.4
p.P48delFs
c.144delG
1 paper
NM_022336.4
p.E35insFs
c.104_105ins7
2 papers
NM_022336.4
p.G51R
c.151G>A
1 paper
NM_022336.4
p.E35K
c.103G>A
1 paper
NM_022336.4
p.G53insFs
c.157_158insA
1 paper
NM_022336.4
p.P52_G53Fs
c.156_157delinsCFs
1 paper
NM_022336.4
p.E54G
c.161A>G
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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."