Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.G73E

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.G73E
c.218G>A
Surrounding Variants
2 papers
NM_001399.5
p.G73_A74insFs
c.219_220insG
2 papers
NM_001399.5
p.G73G
c.219A>T
1 paper
NM_001399.5
p.A74_E75del0
c.220_225del6
1 paper
NM_001399.5
p.G73fs
c.217_218fs
2 papers
NM_001399.5
p.G73*
c.217G>T
1 paper
NM_001399.5
p.G73_R77del0
c.219_230del12
1 paper
NM_001399.5
p.A74_L78delFs
c.221_233del13
1 paper
NM_001399.5
p.G73insFs
c.218_219insG
1 paper
NM_001399.5
p.G73_E75del0
c.218_223del6
1 paper
NM_001399.5
p.R72_S76delFs
c.216_228del13
2 papers
NM_001399.5
p.E75K
c.223G>A
2 papers
NM_001399.5
p.R70W
c.208C>T
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