Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.P11delFs

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
2 papers
NM_022336.4
p.P11delFs
c.31delG
Surrounding Variants
1 paper
NM_022336.4
p.T10T
c.30G>A
1 paper
NM_022336.4
p.T10M
c.29C>T
1 paper
NM_022336.4
p.Q9Q
c.27G>A
3 papers
NM_022336.4
p.V15I
c.43G>A
2 papers
NM_022336.4
p.Q9*
c.25C>T
1 paper
NM_022336.4
p.D6_V15delFs
c.18_43del26
1 paper
NM_022336.4
p.H3_D6del4
c.7_17del12
7 papers
NM_022336.4
p.V17_V18Splc
c.51+1G>A
1 paper
NM_022336.4
p.H3L
c.8A>T
1 paper
NM_022336.4
p.A2insFs
c.5dupC
1 paper
NM_022336.4
p.H3Y
c.7C>T
1 paper
NM_022336.4
p.M1_A2delFs
c.3_6del4
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