Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.S374R

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
14 papers
NM_001399.5
p.S374R
c.1122C>G
NM_001005609.2
p.S372R
c.1116C>G
Surrounding Variants
14 papers
NM_001399.5
p.S374R
c.1122C>A
13 papers
NM_001399.5
p.S374R
c.1120A>C
5 papers
NM_001399.5
p.M373I
c.1119G>A
4 papers
NM_001399.5
p.M373I
c.1119G>C
4 papers
NM_001399.5
p.M373I
c.1119G>T
1 paper
NM_001399.5
p.K375N
c.1125G>T
2 papers
NM_001399.5
p.H376_F379del4
c.1126_1136del12
1 paper
NM_001005609.2
p.M371K
c.1112T>A
3 papers
NM_001399.5
p.N372K
c.1116C>A
1 paper
NM_001399.5
p.H376Q
c.1128C>A
3 papers
NM_001399.5
p.N372K
c.1116C>G
2 papers
NM_001399.5
p.N372D
c.1114A>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."