Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.F302S

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
8 papers
NM_001399.5
p.F302S
c.905T>C
Surrounding Variants
3 papers
NM_001399.5
p.F302C
c.905T>G
1 paper
NM_001399.5
p.F302_I303ins8
c.904_908ins24
5 papers
NM_001399.5
p.Y301C
c.902A>G
1 paper
NM_001399.5
p.I303N
c.908T>A
1 paper
NM_001399.5
p.I303T
c.908T>C
1 paper
NM_001399.5
p.S305insFs
c.913_914ins4
1 paper
NM_001399.5
p.Y304_V307delFs
c.912_921del10
4 papers
NM_001399.5
p.Y304N
c.910T>A
3 papers
NM_001399.5
p.Y304H
c.910T>C
17 papers
NM_001399.5
p.Y304C
c.911A>G
3 papers
NM_001399.5
p.S305_E308delFs
c.915_922del8
1 paper
NM_001399.5
p.S305insFs
c.913_914ins2
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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."