Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.A30insFs

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.A30insFs
c.88_89insG
Surrounding Variants
1 paper
NM_001399.5
p.G28A
c.83G>C
2 papers
NM_001399.5
p.G28_G29insFs
c.84_85insC
2 papers
NM_001399.5
p.G29fs
c.85_86fs
1 paper
NM_001399.5
p.G29_A32del0
c.85_96del12
2 papers
NM_001399.5
p.C27*
c.81T>A
1 paper
NM_001399.5
p.A30fs
c.88_89fs
1 paper
NM_001399.5
p.A30insFs
c.89_90insG
1 paper
NM_001399.5
p.C27R
c.79T>C
1 paper
NM_001399.5
p.G26G
c.78G>A
1 paper
NM_001399.5
p.G26A
c.77G>C
1 paper
NM_001399.5
p.P31insFs
c.92_93insA
1 paper
NM_001399.5
p.G26R
c.76G>A
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