Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.L293delFs

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.L293delFs
c.878delT
Surrounding Variants
3 papers
NM_001399.5
p.L293P
c.878T>C
7 papers
NM_001399.5
p.L293R
c.878T>G
1 paper
NM_001399.5
p.E294K
c.880G>A
1 paper
NM_001399.5
p.E294fs
c.880_881fs
2 papers
NM_001399.5
p.E292*
c.874G>T
1 paper
NM_001399.5
p.E294*
c.880G>T
1 paper
NM_001399.5
p.E294fs
c.880_881fs
1 paper
NM_001399.5
p.E294_V295delFs
c.882_885del4
1 paper
NM_001399.5
p.E294G
c.881A>G
1 paper
NM_001399.5
p.E292delFs
c.875_876delAG
1 paper
NM_001399.5
p.G291V
c.872G>T
36 papers
NM_001399.5
p.G291R
c.871G>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."