Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.G2A

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.G2A
c.5G>C
Surrounding Variants
3 papers
NM_001399.5
p.G2D
c.5G>A
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
10 papers
NM_001399.5
p.G2C
c.4G>T
2 papers
NM_001399.5
p.G2fs
c.4_5fs
1 paper
NM_001399.5
p.M1I
c.3G>A
1 paper
NM_001399.5
p.M1I
c.3G>C
1 paper
NM_001399.5
p.G2ins0
c.4_6dupGGC
1 paper
NM_001399.5
p.M1I
c.3G>T
1 paper
NM_001399.5
p.Y3Fs
c.7delinsTGAGAFs
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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."