Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.K263K

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.K263K
c.789G>A
Surrounding Variants
1 paper
NM_001399.5
p.K263Q
c.787A>C
2 papers
NM_001399.5
p.N264_D265insFs
c.792_793insC
1 paper
NM_001399.5
p.D265insFs
c.793_794insC
3 papers
NM_001399.5
p.D265Y
c.793G>T
1 paper
NM_001399.5
p.V262G
c.785T>G
2 papers
NM_001399.5
p.D265G
c.794A>G
3 papers
NM_001399.5
p.D265Splc
c.793+1G>C
4 papers
NM_001399.5
p.V262F
c.784G>T
1 paper
NM_001399.5
p.Q261P
c.782A>C
1 paper
NM_001399.5
p.D265Splc
c.793+4A>T
1 paper
NM_001399.5
p.Q261fs
c.781_782fs
1 paper
NM_001399.5
p.D265Splc
c.793+5G>A
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