Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.E149K

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.E149K
c.445G>A
Surrounding Variants
1 paper
NM_001399.5
p.E150_R152delFs
c.449_456del8
1 paper
NM_001399.5
p.E150K
c.448G>A
1 paper
NM_001399.5
p.E148insFs
c.442_443ins5
8 papers
NM_001399.5
p.E150*
c.448G>T
1 paper
NM_001399.5
p.E148fs
c.442_443fs
1 paper
NM_001399.5
p.S147fs
c.439_440fs
1 paper
NM_001399.5
p.Y146delFs
c.438delC
1 paper
NM_001399.5
p.S147_E148insFs
c.441_442ins5
1 paper
NM_001399.5
p.R152_R156delins
c.456_468delinsT
24 papers
NM_001399.5
p.R153C
c.457C>T
8 papers
NM_001399.5
p.R153H
c.458G>A
1 paper
NM_001399.5
p.V154delFs
c.462delT
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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."