Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.E308K

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.E308K
c.922G>A
Surrounding Variants
1 paper
NM_001399.5
p.E308fs
c.922_923fs
3 papers
NM_001399.5
p.V307G
c.920T>G
1 paper
NM_001399.5
p.V307insFs
c.920dupT
1 paper
NM_001399.5
p.E308_V309Splc
c.924+1G>T
5 papers
NM_001399.5
p.Q306H
c.918G>C
5 papers
NM_001399.5
p.Q306H
c.918G>T
1 paper
NM_001399.5
p.E308_V309Splc
c.924+2T>A
1 paper
NM_001399.5
p.E308_V309Splc
c.924+2T>C
1 paper
NM_001399.5
p.Q306P
c.917A>C
4 papers
NM_001399.5
p.Q306R
c.917A>G
2 papers
NM_001399.5
p.Q306K
c.916C>A
2 papers
NM_001399.5
p.Q306*
c.916C>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."