Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Y310delFs

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.Y310delFs
c.928delT
Surrounding Variants
1 paper
NM_001399.5
p.V309E
c.926T>A
1 paper
NM_001399.5
p.Y310H
c.928T>C
5 papers
NM_001399.5
p.V309G
c.926T>G
1 paper
NM_001399.5
p.Y310insFs
c.929dupA
1 paper
NM_001399.5
p.Y310C
c.929A>G
1 paper
NM_001399.5
p.V309_I312del0
c.927_935del9
3 papers
NM_001399.5
p.E308_V309Splc
c.925-2A>G
4 papers
NM_001399.5
p.E308_V309Splc
c.925-3C>G
4 papers
NM_001399.5
p.I312N
c.935T>A
5 papers
NM_001399.5
p.I312M
c.936C>G
1 paper
NM_001005609.2
p.F312Y
c.935T>A
1 paper
NM_001399.5
p.T315insFs
c.944_945insG
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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."