Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Y61*

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
12 papers
NM_001399.5
p.Y61*
c.183C>G
Surrounding Variants
12 papers
NM_001399.5
p.Y61*
c.183C>A
1 paper
NM_001399.5
p.Y61_R65del0
c.183_194del12
1 paper
NM_001399.5
p.L62L
c.184C>T
3 papers
NM_001399.5
p.L62_S66del0
c.185_196del12
14 papers
NM_001399.5
p.Y61H
c.181T>C
3 papers
NM_001399.5
p.L62P
c.185T>C
10 papers
NM_001399.5
p.E63K
c.187G>A
1 paper
NM_001399.5
p.E63*
c.187G>T
1 paper
NM_001399.5
p.E63_S66delFs
c.188_197del10
1 paper
NM_001399.5
p.E63delFs
c.189delG
8 papers
NM_001399.5
p.C60R
c.178T>C
2 papers
NM_001399.5
p.L64_S66del0
c.191_196del6
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