Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.R384S

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
Selected Variant
3 papers
NM_001399.5
p.R384S
c.1152G>T
Surrounding Variants
2 papers
NM_001399.5
p.R384S
c.1152G>C
4 papers
NM_001399.5
p.G386R
c.1156G>C
2 papers
NM_001399.5
p.A382T
c.1144G>A
1 paper
NM_001399.5
p.E387D
c.1161A>C
1 paper
NM_001399.5
p.E387D
c.1161A>T
2 papers
NM_001399.5
p.G381E
c.1142G>A
4 papers
NM_001399.5
p.G381A
c.1142G>C
2 papers
NM_001399.5
p.G381V
c.1142G>T
1 paper
NM_001399.5
p.P389delFs
c.1166delC
5 papers
NM_001399.5
p.G381R
c.1141G>A
5 papers
NM_001399.5
p.G381R
c.1141G>C
1 paper
NM_001399.5
p.P389insFs
c.1167dupT
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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."