Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.N137I

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.N137I
c.410A>T
Surrounding Variants
1 paper
NM_001399.5
p.F138delFs
c.412_413delTT
1 paper
NM_001399.5
p.L136*
c.407T>A
1 paper
NM_001399.5
p.F138Y
c.413T>A
13 papers
NM_001399.5
p.L136V
c.406T>G
10 papers
NM_001399.5
p.A134A
c.402C>T
1 paper
NM_001399.5
p.A134T
c.400G>A
2 papers
NM_001399.5
p.M133V
c.397A>G
1 paper
NM_001399.5
p.M133fs
c.397_398fs
8 papers
NM_001399.5
p.P141P
c.423T>C
1 paper
NM_001399.5
p.Q132_M133Splc
c.397-3C>G
1 paper
NM_001399.5
p.E143K
c.427G>A
1 paper
NM_001399.5
p.E143G
c.428A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."