Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.G299D

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
6 papers
NM_001399.5
p.G299D
c.896G>A
Surrounding Variants
2 papers
NM_001399.5
p.G299A
c.896G>C
25 papers
NM_001399.5
p.G299S
c.895G>A
5 papers
NM_001399.5
p.G299R
c.895G>C
8 papers
NM_001399.5
p.D298H
c.892G>C
2 papers
NM_001399.5
p.D298Y
c.892G>T
5 papers
NM_001399.5
p.Y301C
c.902A>G
3 papers
NM_001399.5
p.V297M
c.889G>A
1 paper
NM_001399.5
p.F302_I303ins8
c.904_908ins24
8 papers
NM_001399.5
p.F302S
c.905T>C
3 papers
NM_001399.5
p.F302C
c.905T>G
1 paper
NM_001005612.3
p.L293R
c.878T>G
2 papers
NM_001399.5
p.L296V
c.886C>G
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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."