Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.L55P

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.L55P
c.164T>C
Surrounding Variants
1 paper
NM_001399.5
p.L55Q
c.164T>A
17 papers
NM_001399.5
p.L55R
c.164T>G
3 papers
NM_001399.5
p.L55L
c.165G>A
1 paper
NM_001399.5
p.L56delFs
c.167delT
4 papers
NM_001399.5
p.H54R
c.161A>G
2 papers
NM_001399.5
p.L56Q
c.167T>A
2 papers
NM_001399.5
p.L56P
c.167T>C
1 paper
NM_001399.5
p.H54D
c.160C>G
11 papers
NM_001399.5
p.H54Y
c.160C>T
1 paper
NM_001399.5
p.T57insFs
c.170dupC
2 papers
NM_001399.5
p.T57A
c.169A>G
3 papers
NM_001399.5
p.T57R
c.170C>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."