Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.L116S

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.L116S
c.347T>C
Surrounding Variants
2 papers
NM_001399.5
p.L116*
c.347T>A
2 papers
NM_001399.5
p.P118L
c.353C>T
1 paper
NM_001399.5
p.E120delFs
c.358delG
5 papers
NM_001399.5
p.Q113*
c.337C>T
2 papers
NM_001399.5
p.E120*
c.358G>T
1 paper
NM_001399.5
p.K112*
c.334A>T
2 papers
NM_001399.5
p.A121delFs
c.361delG
3 papers
NM_001399.5
p.A121_A122insFs
c.363_364insC
1 paper
NM_001399.5
p.A122insFs
c.364_365insC
3 papers
NM_001399.5
p.A122E
c.365C>A
2 papers
NM_001399.5
p.S110*
c.329C>A
2 papers
NM_001399.5
p.S110*
c.329C>G
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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."