Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.W274C

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
2 papers
NM_001399.5
p.W274C
c.822G>T
Surrounding Variants
6 papers
NM_001399.5
p.W274*
c.822G>A
2 papers
NM_001399.5
p.W274C
c.822G>C
6 papers
NM_001399.5
p.W274*
c.821G>A
1 paper
NM_001399.5
p.W274R
c.820T>A
1 paper
NM_001399.5
p.W274R
c.820T>C
5 papers
NM_001399.5
p.W274G
c.820T>G
1 paper
NM_001399.5
p.W274fs
c.820_821fs
1 paper
NM_001399.5
p.W274delFs
c.822delG
5 papers
NM_001399.5
p.R276C
c.826C>T
1 paper
NM_001399.5
p.R276L
c.827G>T
2 papers
NM_001399.5
p.I277delFs
c.831delC
2 papers
NM_001399.5
p.L271P
c.812T>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."