Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.C113Y

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
5 papers
NM_022336.4
p.C113Y
c.338G>A
Surrounding Variants
1 paper
NM_022336.4
p.P115A
c.343C>G
1 paper
NM_022336.4
p.A111G
c.332C>G
1 paper
NM_022336.4
p.C116F
c.347G>T
1 paper
NM_022336.4
p.C116Y
c.347G>A
5 papers
NM_022336.4
p.D110A
c.329A>C
1 paper
NM_022336.4
p.D110Y
c.328G>T
4 papers
NM_022336.4
p.M107V
c.319A>G
1 paper
NM_022336.4
p.P104S
c.310C>T
1 paper
NM_022336.4
p.T103I
c.308C>T
1 paper
NM_022336.4
p.L102delFs
c.305delA
2 papers
NM_022336.4
p.T100insFs
c.299dupC
1 paper
NM_022336.4
p.V101M
c.301G>A
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