Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.G37insFs

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.G37insFs
c.110_111insC
Surrounding Variants
1 paper
NM_001399.5
p.N38fs
c.112_113fs
2 papers
NM_001399.5
p.G37delFs
c.111delG
1 paper
NM_001399.5
p.E36fs
c.106_107fs
1 paper
NM_001399.5
p.E36*
c.106G>T
1 paper
NM_001399.5
p.E36fs
c.106_107fs
1 paper
NM_001399.5
p.E36_C40delFs
c.106_118del13
1 paper
NM_001399.5
p.G35D
c.104G>A
1 paper
NM_001399.5
p.G35insFs
c.104_105ins7
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.A34P
c.100G>C
1 paper
NM_001399.5
p.A34fs
c.100_101fs
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