Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.G350D

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.G350D
c.1049G>A
Surrounding Variants
2 papers
NM_001399.5
p.G350V
c.1049G>T
8 papers
NM_001399.5
p.G350C
c.1048G>T
1 paper
NM_001399.5
p.G350_V351delFs
c.1049_1052del4
1 paper
NM_001399.5
p.V351I
c.1051G>A
3 papers
NM_001399.5
p.V351F
c.1051G>T
1 paper
NM_001399.5
p.V351delFs
c.1052_1053delTC
4 papers
NM_001399.5
p.A349V
c.1046C>T
42 papers
NM_001399.5
p.A349T
c.1045G>A
1 paper
NM_001005609.2
p.T346T
c.1038C>G
1 paper
NM_001399.5
p.T348T
c.1044C>T
1 paper
NM_001005609.2
p.C350Y
c.1049G>A
3 papers
NM_001399.5
p.L354del1
c.1060_1062delCTC
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