Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.L44_G45delFs

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.L44_G45delFs
c.131_134del4
Surrounding Variants
1 paper
NM_001399.5
p.G45delFs
c.133delG
4 papers
NM_001399.5
p.G45R
c.133G>C
1 paper
NM_001399.5
p.F43I
c.127T>A
2 papers
NM_001399.5
p.G45D
c.134G>A
1 paper
NM_001399.5
p.L42P
c.125T>C
1 paper
NM_001399.5
p.L42F
c.124C>T
2 papers
NM_001399.5
p.L41insFs
c.122_123insC
1 paper
NM_001399.5
p.C40*
c.120C>A
1 paper
NM_001399.5
p.C40_L41insFs
c.120_121ins4
1 paper
NM_001399.5
p.F47L
c.141T>G
1 paper
NM_001399.5
p.G48D
c.143G>A
1 paper
NM_001399.5
p.L49insFs
c.146dupT
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