Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.C332F

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
4 papers
NM_001399.5
p.C332F
c.995G>T
Surrounding Variants
7 papers
NM_001399.5
p.C332Y
c.995G>A
6 papers
NM_001399.5
p.C332C
c.996C>T
7 papers
NM_001399.5
p.T333S
c.997A>T
3 papers
NM_001399.5
p.Q331H
c.993G>C
2 papers
NM_001399.5
p.Q331H
c.993G>T
1 paper
NM_001399.5
p.T333R
c.998C>G
2 papers
NM_001399.5
p.Q331*
c.991C>T
18 papers
NM_001399.5
p.R334H
c.1001G>A
2 papers
NM_001399.5
p.L330P
c.989T>C
1 paper
NM_001399.5
p.F329F
c.987C>T
1 paper
NM_001399.5
p.P328H
c.983C>A
1 paper
NM_001399.5
p.P328R
c.983C>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."