Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.L348P

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.L348P
c.1043T>C
Surrounding Variants
1 paper
NM_022336.4
p.E347delFs
c.1041delC
1 paper
NM_022336.4
p.E347fs
c.1039_1040fs
1 paper
NM_022336.4
p.P349L
c.1046C>T
2 papers
NM_022336.4
p.T346M
c.1037C>T
1 paper
NM_022336.4
p.D351fs
c.1051_1052fs
6 papers
NM_022336.4
p.C352C
c.1056C>T
1 paper
NM_022336.4
p.F350_D351delFs
c.1049_1052del4
1 paper
NM_022336.4
p.L343L
c.1029T>G
4 papers
NM_022336.4
p.E354*
c.1060G>T
1 paper
NM_022336.4
p.G342S
c.1024G>A
1 paper
NM_022336.4
p.E354del1
c.1060_1062delCTC
1 paper
NM_022336.4
p.S357T
c.1070G>C
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