Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.P101delFs

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.P101delFs
c.302_303delCC
Surrounding Variants
3 papers
NM_001399.5
p.S100N
c.299G>A
1 paper
NM_001399.5
p.P101insFs
c.302_303ins8
1 paper
NM_001399.5
p.D99N
c.295G>A
1 paper
NM_001399.5
p.I102fs
c.304_305fs
3 papers
NM_001399.5
p.I102delFs
c.305delT
1 paper
NM_001399.5
p.P98_D99Fs
c.294_296delinsCATCACCAGTCACCTTFs
1 paper
NM_001399.5
p.P98H
c.293C>A
1 paper
NM_001399.5
p.D97delFs
c.291delC
1 paper
NM_001399.5
p.T103I
c.308C>T
1 paper
NM_001399.5
p.T103T
c.309C>T
1 paper
NM_001399.5
p.D97N
c.289G>A
1 paper
NM_001399.5
p.L96L
c.288C>T
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