Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Q358E

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
17 papers
NM_001399.5
p.Q358E
c.1072C>G
Surrounding Variants
6 papers
NM_001399.5
p.Q358*
c.1072C>T
5 papers
NM_001399.5
p.Q358R
c.1073A>G
2 papers
NM_001399.5
p.Q358L
c.1073A>T
15 papers
NM_001399.5
p.R357P
c.1070G>C
1 paper
NM_001399.5
p.Q358H
c.1074G>C
1 paper
NM_001399.5
p.Q358H
c.1074G>T
1 paper
NM_001399.5
p.K359Q
c.1075A>C
3 papers
NM_001399.5
p.K359*
c.1075A>T
6 papers
NM_001399.5
p.R357W
c.1069C>T
14 papers
NM_001399.5
p.A356D
c.1067C>A
2 papers
NM_001399.5
p.A356V
c.1067C>T
2 papers
NM_001399.5
p.A356T
c.1066G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."