Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.R18W

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.R18W
c.52C>T
Surrounding Variants
1 paper
NM_001399.5
p.R18R
c.52C>A
1 paper
NM_001399.5
p.E19*
c.55G>T
1 paper
NM_001399.5
p.E19A
c.56A>C
3 papers
NM_001399.5
p.P17delFs
c.49delC
1 paper
NM_001399.5
p.A16V
c.47C>T
2 papers
NM_001399.5
p.A16insFs
c.46_47insC
3 papers
NM_001399.5
p.S22_G24insFs
c.64_71dup8
1 paper
NM_001399.5
p.A15T
c.43G>A
1 paper
NM_001399.5
p.S22G
c.64A>G
1 paper
NM_001399.5
p.S22_G26delFs
c.66_78del13
10 papers
NM_001399.5
p.Q23*
c.67C>T
1 paper
NM_001399.5
p.L12Q
c.35T>A
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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."