Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.G168Splc

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
6 papers
NM_001399.5
p.G168Splc
c.502+1G>A
Surrounding Variants
1 paper
NM_001399.5
p.G168Splc
c.502+2T>A
5 papers
NM_001399.5
p.G165A
c.494G>C
2 papers
NM_001399.5
p.G165R
c.493G>A
2 papers
NM_001399.5
p.G165R
c.493G>C
1 paper
NM_001399.5
p.G165fs
c.493_494fs
9 papers
NM_001399.5
p.E164A
c.491A>C
1 paper
NM_001399.5
p.E164delFs
c.492delA
1 paper
NM_001399.5
p.N163S
c.488A>G
1 paper
NM_001399.5
p.S160R
c.480C>G
1 paper
NM_001399.5
p.R159K
c.476G>A
3 papers
NM_001399.5
p.K158N
c.474A>C
4 papers
NM_001399.5
p.K158N
c.474A>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."