Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.S267S

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
3 papers
NM_001399.5
p.S267S
c.801A>G
Surrounding Variants
1 paper
NM_001399.5
p.L266_S267insFs
c.798_799insG
2 papers
NM_001399.5
p.L266R
c.797T>G
1 paper
NM_001399.5
p.L266I
c.796C>A
3 papers
NM_001399.5
p.G269E
c.806G>A
9 papers
NM_001399.5
p.G269V
c.806G>T
1 paper
NM_001399.5
p.D265G
c.794A>G
1 paper
NM_001399.5
p.V270M
c.808G>A
1 paper
NM_001399.5
p.D265Splc
c.794-1G>A
2 papers
NM_001399.5
p.L271_R276del0
c.811_828del18
2 papers
NM_001399.5
p.L271P
c.812T>C
1 paper
NM_001399.5
p.W274R
c.820T>A
1 paper
NM_001399.5
p.W274R
c.820T>C
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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."