Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.F47L

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
1 paper
NM_001399.5
p.F47L
c.141T>G
Surrounding Variants
1 paper
NM_001399.5
p.G48D
c.143G>A
1 paper
NM_001399.5
p.L49insFs
c.146dupT
7 papers
NM_001399.5
p.L49H
c.146T>A
4 papers
NM_001399.5
p.L49P
c.146T>C
2 papers
NM_001399.5
p.G45D
c.134G>A
1 paper
NM_001399.5
p.S50*
c.149C>A
4 papers
NM_001399.5
p.G45R
c.133G>C
1 paper
NM_001399.5
p.G45delFs
c.133delG
1 paper
NM_001399.5
p.L44_G45delFs
c.131_134del4
4 papers
NM_001399.5
p.L51Q
c.152T>A
1 paper
NM_001399.5
p.A52_L53Fs
c.156_157delinsCFs
1 paper
NM_001399.5
p.F43I
c.127T>A
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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."