Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.S290C

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
2 papers
NM_001399.5
p.S290C
c.868A>T
Surrounding Variants
1 paper
NM_001399.5
p.R289R
c.867C>T
9 papers
NM_001399.5
p.R289H
c.866G>A
2 papers
NM_001399.5
p.R289P
c.866G>C
5 papers
NM_001399.5
p.R289L
c.866G>T
18 papers
NM_001399.5
p.R289C
c.865C>T
36 papers
NM_001399.5
p.G291R
c.871G>A
32 papers
NM_001399.5
p.G291R
c.871G>C
13 papers
NM_001399.5
p.G291W
c.871G>T
1 paper
NM_001399.5
p.G291V
c.872G>T
1 paper
NM_001399.5
p.E292delFs
c.875_876delAG
1 paper
NM_001399.5
p.P288insFs
c.862_863insG
1 paper
NM_001399.5
p.P288_R289insC
c.862_866ins3
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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."