Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.K372_T373del1

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.K372_T373del1
c.1115_1117delTTT
Surrounding Variants
2 papers
NM_022336.4
p.T373M
c.1118C>T
1 paper
NM_022336.4
p.T373T
c.1119G>C
1 paper
NM_022336.4
p.R375C
c.1123C>T
8 papers
NM_022336.4
p.R375H
c.1124G>A
1 paper
NM_022336.4
p.V370G
c.1109T>G
79 papers
NM_022336.4
p.V370A
c.1109T>C
1 paper
NM_022336.4
p.V370I
c.1108G>A
4 papers
NM_022336.4
p.L377F
c.1129C>T
1 paper
NM_022336.4
p.A369P
c.1105G>C
1 paper
NM_022336.4
p.L377L
c.1131C>A
4 papers
NM_022336.4
p.A378V
c.1133C>T
1 paper
NM_022336.4
p.A378G
c.1133C>G
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