Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.L96F

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.L96F
c.286C>T
Surrounding Variants
2 papers
NM_001399.5
p.L96V
c.286C>G
4 papers
NM_001399.5
p.L96insFs
c.287_288insC
1 paper
NM_001399.5
p.L96L
c.288C>T
1 paper
NM_001399.5
p.G95S
c.283G>A
1 paper
NM_001399.5
p.D97N
c.289G>A
1 paper
NM_001399.5
p.D97delFs
c.291delC
1 paper
NM_001399.5
p.P98H
c.293C>A
1 paper
NM_001399.5
p.G94insFs
c.280_281ins4
1 paper
NM_001399.5
p.P98_D99Fs
c.294_296delinsCATCACCAGTCACCTTFs
1 paper
NM_001399.5
p.D99N
c.295G>A
1 paper
NM_001399.5
p.L93ins1
c.277_278insGCC
3 papers
NM_001399.5
p.S100N
c.299G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."