Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.C71Y

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
6 papers
NM_022336.4
p.C71Y
c.212G>A
Surrounding Variants
1 paper
NM_022336.4
p.G70fs
c.208_209fs
1 paper
NM_022336.4
p.Y69Fs
c.207delinsTTFs
2 papers
NM_022336.4
p.D68delFs
c.204delG
1 paper
NM_022336.4
p.P73_C74insFs
c.219_220insG
2 papers
NM_022336.4
p.Y69fs
c.205_206fs
1 paper
NM_022336.4
p.P75Q
c.224C>A
1 paper
NM_022336.4
p.K65R
c.194A>G
1 paper
NM_022336.4
p.Y62F
c.185A>T
2 papers
NM_022336.4
p.G82E
c.245G>A
6 papers
NM_022336.4
p.C60R
c.178T>C
1 paper
NM_022336.4
p.Y84_Q85insC
c.250_254ins3
2 papers
NM_022336.4
p.L58_S59Splc
c.175-1G>A
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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."