Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Q306H

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
5 papers
NM_001399.5
p.Q306H
c.918G>C
Surrounding Variants
5 papers
NM_001399.5
p.Q306H
c.918G>T
1 paper
NM_001399.5
p.Q306P
c.917A>C
4 papers
NM_001399.5
p.Q306R
c.917A>G
1 paper
NM_001399.5
p.V307insFs
c.920dupT
2 papers
NM_001399.5
p.Q306K
c.916C>A
2 papers
NM_001399.5
p.Q306*
c.916C>T
3 papers
NM_001399.5
p.V307G
c.920T>G
3 papers
NM_001399.5
p.S305R
c.915T>A
3 papers
NM_001399.5
p.S305R
c.915T>G
1 paper
NM_001399.5
p.S305N
c.914G>A
1 paper
NM_001399.5
p.E308K
c.922G>A
3 papers
NM_001399.5
p.S305I
c.914G>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."