Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Y3*

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.Y3*
c.9C>A
Surrounding Variants
1 paper
NM_001399.5
p.Y3*
c.9C>G
1 paper
NM_001399.5
p.Y3delFs
c.9delC
1 paper
NM_001399.5
p.P4L
c.11C>T
1 paper
NM_001399.5
p.Y3Fs
c.7delinsTGAGAFs
1 paper
NM_001399.5
p.Y3Fs
c.7delinsTGAGAGAAGGGCFs
1 paper
NM_001399.5
p.G2G
c.6C>A
1 paper
NM_001399.5
p.G2G
c.6C>G
1 paper
NM_001399.5
p.G2G
c.6C>T
1 paper
NM_001399.5
p.Y3_V6del4
c.7_17del12
2 papers
NM_001399.5
p.P4P
c.12G>C
3 papers
NM_001399.5
p.G2D
c.5G>A
1 paper
NM_001399.5
p.G2A
c.5G>C
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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."