Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.M279R

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
7 papers
NM_001399.5
p.M279R
c.836T>G
Surrounding Variants
2 papers
NM_001399.5
p.M279I
c.837G>A
1 paper
NM_001399.5
p.M279I
c.837G>C
1 paper
NM_001399.5
p.M279I
c.837G>T
1 paper
NM_001399.5
p.N280_P281ins4
c.838_842ins12
1 paper
NM_001399.5
p.N280fs
c.838_839fs
2 papers
NM_001399.5
p.P281insFs
c.841_842insC
1 paper
NM_001399.5
p.N280_V283Fs
c.839_847delinsTTFs
4 papers
NM_001399.5
p.N280K
c.840C>A
4 papers
NM_001399.5
p.N280K
c.840C>G
2 papers
NM_001399.5
p.I277delFs
c.831delC
1 paper
NM_001399.5
p.R276L
c.827G>T
5 papers
NM_001399.5
p.R276C
c.826C>T
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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."