Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.L93ins1

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.L93ins1
c.277_278insGCC
Surrounding Variants
1 paper
NM_001399.5
p.S91insFs
c.272dupG
1 paper
NM_001399.5
p.S91G
c.271A>G
1 paper
NM_001399.5
p.S91fs
c.271_272fs
1 paper
NM_001399.5
p.G94insFs
c.280_281ins4
1 paper
NM_001399.5
p.G95S
c.283G>A
2 papers
NM_001399.5
p.L96V
c.286C>G
1 paper
NM_001399.5
p.L96F
c.286C>T
1 paper
NM_001399.5
p.G88S
c.262G>A
1 paper
NM_001399.5
p.G88_T89insG
c.262_266ins3
4 papers
NM_001399.5
p.L96insFs
c.287_288insC
1 paper
NM_001399.5
p.S87F
c.260C>T
1 paper
NM_001399.5
p.L96L
c.288C>T
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