Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.E67*

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.E67*
c.199G>T
Surrounding Variants
9 papers
NM_001399.5
p.E67V
c.200A>T
3 papers
NM_001399.5
p.S66S
c.198G>A
1 paper
NM_001399.5
p.S66W
c.197C>G
1 paper
NM_001399.5
p.E67_L68del0
c.199_204del6
1 paper
NM_001399.5
p.S66_L78del13
c.196_233del39
1 paper
NM_001399.5
p.R69_R70del0
c.205_210del6
1 paper
NM_001399.5
p.R65H
c.194G>A
1 paper
NM_001399.5
p.R65P
c.194G>C
14 papers
NM_001399.5
p.R65G
c.193C>G
2 papers
NM_001399.5
p.R69P
c.206G>C
21 papers
NM_001399.5
p.R69L
c.206G>T
1 paper
NM_001399.5
p.R65_E67del0
c.193_201del9
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