Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.S110*

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
2 papers
NM_001399.5
p.S110*
c.329C>A
Surrounding Variants
2 papers
NM_001399.5
p.S110*
c.329C>G
2 papers
NM_001399.5
p.S110_P111insC
c.328_332ins3
1 paper
NM_001399.5
p.K112*
c.334A>T
5 papers
NM_001399.5
p.Q113*
c.337C>T
1 paper
NM_001399.5
p.L106_P118del13
c.316_353del39
2 papers
NM_001399.5
p.H105Y
c.313C>T
1 paper
NM_001399.5
p.S104N
c.311G>A
1 paper
NM_001399.5
p.S104I
c.311G>T
2 papers
NM_001399.5
p.L116*
c.347T>A
1 paper
NM_001399.5
p.L116S
c.347T>C
1 paper
NM_001399.5
p.T103T
c.309C>T
1 paper
NM_001399.5
p.T103I
c.308C>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."