Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.V324_D325del1

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
1 paper
NM_001399.5
p.V324_D325del1
c.971_973delTGG
Surrounding Variants
7 papers
NM_001399.5
p.E321*
c.961G>T
1 paper
NM_001399.5
p.E321delFs
c.962delA
15 papers
NM_001399.5
p.Y320C
c.959A>G
4 papers
NM_001399.5
p.V322A
c.965T>C
2 papers
NM_001399.5
p.V323delFs
c.967delG
5 papers
NM_001399.5
p.S319R
c.957C>A
7 papers
NM_001399.5
p.S319R
c.957C>G
1 paper
NM_001399.5
p.S319N
c.956G>A
4 papers
NM_001399.5
p.S319I
c.956G>T
2 papers
NM_001399.5
p.V323G
c.968T>G
5 papers
NM_001399.5
p.S319R
c.955A>C
3 papers
NM_001399.5
p.V324E
c.971T>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."