Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.T378K

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
2 papers
NM_001399.5
p.T378K
c.1133C>A
Surrounding Variants
1 paper
NM_001399.5
p.T378R
c.1133C>G
34 papers
NM_001399.5
p.T378M
c.1133C>T
NM_001005609.2
p.T376M
c.1127C>T
6 papers
NM_001399.5
p.T378P
c.1132A>C
1 paper
NM_001399.5
p.T378delFs
c.1133delC
2 papers
NM_001399.5
p.T378T
c.1134G>C
1 paper
NM_001005609.2
p.T376_G379del4
c.1126_1136del12
2 papers
NM_001399.5
p.F379V
c.1135T>G
6 papers
NM_001399.5
p.F379S
c.1136T>C
1 paper
NM_001399.5
p.H376Q
c.1128C>A
5 papers
NM_001399.5
p.G381R
c.1141G>A
5 papers
NM_001399.5
p.G381R
c.1141G>C
1 paper
NM_001399.5
p.K375N
c.1125G>T
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