Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.R156L

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
5 papers
NM_001399.5
p.R156L
c.467G>T
Surrounding Variants
47 papers
NM_001399.5
p.R156H
c.467G>A
5 papers
NM_001399.5
p.R156S
c.466C>A
1 paper
NM_001399.5
p.R156G
c.466C>G
39 papers
NM_001399.5
p.R156C
c.466C>T
1 paper
NM_001399.5
p.R156fs
c.466_467fs
1 paper
NM_001399.5
p.R155R
c.465C>T
3 papers
NM_001399.5
p.R156delFs
c.467_468delGC
1 paper
NM_001399.5
p.N157T
c.470A>C
2 papers
NM_001399.5
p.R155H
c.464G>A
46 papers
NM_001399.5
p.R155C
c.463C>T
1 paper
NM_001399.5
p.K158*
c.472A>T
1 paper
NM_001399.5
p.V154A
c.461T>C
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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."