Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.G85_L96delFs

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.G85_L96delFs
c.254_288del35
Surrounding Variants
3 papers
NM_001399.5
p.G85fs
c.253_254fs
1 paper
NM_001399.5
p.G85D
c.254G>A
1 paper
NM_001399.5
p.G85_L96del12
c.253_287del36
7 papers
NM_001399.5
p.P84delFs
c.252delT
2 papers
NM_001399.5
p.P84fs
c.250_251fs
2 papers
NM_001399.5
p.P84_G85insC
c.250_254ins3
1 paper
NM_001399.5
p.S87F
c.260C>T
1 paper
NM_001399.5
p.G82D
c.245G>A
1 paper
NM_001399.5
p.G88S
c.262G>A
1 paper
NM_001399.5
p.G88_T89insG
c.262_266ins3
1 paper
NM_001399.5
p.G82_P84del0
c.244_252del9
2 papers
NM_001399.5
p.S81L
c.242C>T
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