Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.H252L

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
19 papers
NM_001399.5
p.H252L
c.755A>T
Surrounding Variants
3 papers
NM_001399.5
p.H252N
c.754C>A
8 papers
NM_001399.5
p.H252Y
c.754C>T
3 papers
NM_001399.5
p.H252Q
c.756T>A
3 papers
NM_001399.5
p.H252Q
c.756T>G
5 papers
NM_001399.5
p.L253P
c.758T>C
3 papers
NM_001399.5
p.V251M
c.751G>A
3 papers
NM_001399.5
p.Q254*
c.760C>T
7 papers
NM_001399.5
p.G255C
c.763G>T
2 papers
NM_001399.5
p.G255D
c.764G>A
4 papers
NM_001399.5
p.Q256*
c.766C>T
1 paper
NM_001399.5
p.G257insFs
c.771dupG
1 paper
NM_001399.5
p.P248S
c.742C>T
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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."