Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.M364T

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
6 papers
NM_001399.5
p.M364T
c.1091T>C
Surrounding Variants
3 papers
NM_001399.5
p.M364R
c.1091T>G
7 papers
NM_001399.5
p.V365A
c.1094T>C
1 paper
NM_001399.5
p.K363_M364insC
c.1087_1091ins3
1 paper
NM_001399.5
p.K363Q
c.1087A>C
1 paper
NM_001399.5
p.K363E
c.1087A>G
1 paper
NM_001399.5
p.V362F
c.1084G>T
1 paper
NM_001399.5
p.A367T
c.1099G>A
2 papers
NM_001399.5
p.D368_I369insC
c.1102_1106ins3
2 papers
NM_001399.5
p.I360N
c.1079T>A
1 paper
NM_001399.5
p.K359Q
c.1075A>C
3 papers
NM_001399.5
p.K359*
c.1075A>T
1 paper
NM_001399.5
p.Q358H
c.1074G>C
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