Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.S125C

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
3 papers
NM_001399.5
p.S125C
c.374C>G
Surrounding Variants
1 paper
NM_001399.5
p.S125A
c.373T>G
2 papers
NM_001399.5
p.D126_S127delFs
c.376_379del4
1 paper
NM_001399.5
p.S127F
c.380C>T
2 papers
NM_001399.5
p.L123insFs
c.368_369insC
2 papers
NM_001399.5
p.L123fs
c.367_368fs
1 paper
NM_001399.5
p.L123F
c.367C>T
2 papers
NM_001399.5
p.S127_Q128Fs
c.381_382delinsGFs
3 papers
NM_001399.5
p.Q128*
c.382C>T
1 paper
NM_001399.5
p.Q128fs
c.382_383fs
3 papers
NM_001399.5
p.A122E
c.365C>A
1 paper
NM_001399.5
p.A122insFs
c.364_365insC
1 paper
NM_001399.5
p.D129insFs
c.387dupC
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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."