Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.L353F

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.L353F
c.1057C>T
Surrounding Variants
1 paper
NM_001399.5
p.C352C
c.1056C>T
1 paper
NM_001005609.2
p.C350Y
c.1049G>A
3 papers
NM_001399.5
p.L354del1
c.1060_1062delCTC
1 paper
NM_001399.5
p.L354F
c.1060C>T
6 papers
NM_001399.5
p.L354P
c.1061T>C
1 paper
NM_001399.5
p.V351I
c.1051G>A
3 papers
NM_001399.5
p.V351F
c.1051G>T
1 paper
NM_001399.5
p.V351delFs
c.1052_1053delTC
6 papers
NM_001399.5
p.G350D
c.1049G>A
2 papers
NM_001399.5
p.G350V
c.1049G>T
2 papers
NM_001399.5
p.A356T
c.1066G>A
1 paper
NM_001399.5
p.R357insFs
c.1069dupC
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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."