Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.M391T

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.M391T
c.1172T>C
Surrounding Variants
3 papers
NM_022336.4
p.M391K
c.1172T>A
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
3 papers
NM_022336.4
p.I388T
c.1163T>C
1 paper
NM_022336.4
p.E387D
c.1161G>T
1 paper
NM_022336.4
p.E387D
c.1161G>C
1 paper
NM_022336.4
p.D386H
c.1156G>C
1 paper
NM_022336.4
p.L397F
c.1189C>T
1 paper
NM_022336.4
p.Q396ins0
c.1186_1188dupCAA
3 papers
NM_022336.4
p.L397H
c.1190T>A
2 papers
NM_022336.4
p.G382_L383delFs
c.1146_1149del4
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