Varaico: Literature-Extracted Genetic Variants

Gene:EDA

EDA

513 papers

RefSeq Summary

The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as ...

Pfam Domains

TNFaa 272–385UCSCTNF(Tumour Necrosis Factor) family

Gene Aliases

HGNC Name

ectodysplasin A

HGNC Previous Symbols

ED1; EDA2; ODT1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 750 variants
47 papers
NM_001399.5
p.R156H
c.467G>A
46 papers
NM_001399.5
p.R155C
c.463C>T
42 papers
NM_001399.5
p.A349T
c.1045G>A
39 papers
NM_001399.5
p.R156C
c.466C>T
36 papers
NM_001399.5
p.G291R
c.871G>A
34 papers
NM_001399.5
p.T378M
c.1133C>T
32 papers
NM_001399.5
p.G291R
c.871G>C
25 papers
NM_001399.5
p.G299S
c.895G>A
24 papers
NM_001399.5
p.R153C
c.457C>T
24 papers
NM_001399.5
p.T338M
c.1013C>T
21 papers
NM_001399.5
p.R69L
c.206G>T
19 papers
NM_001399.5
p.H252L
c.755A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."