Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Y304C

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
17 papers
NM_001399.5
p.Y304C
c.911A>G
Surrounding Variants
3 papers
NM_001399.5
p.S305_E308delFs
c.915_922del8
4 papers
NM_001399.5
p.Y304N
c.910T>A
3 papers
NM_001399.5
p.Y304H
c.910T>C
1 paper
NM_001399.5
p.S305insFs
c.913_914ins2
4 papers
NM_001399.5
p.S305R
c.913A>C
2 papers
NM_001399.5
p.S305fs
c.913_914fs
1 paper
NM_001399.5
p.S305insFs
c.913_914ins4
1 paper
NM_001399.5
p.Y304_V307delFs
c.912_921del10
1 paper
NM_001399.5
p.S305N
c.914G>A
3 papers
NM_001399.5
p.S305I
c.914G>T
1 paper
NM_001399.5
p.I303N
c.908T>A
1 paper
NM_001399.5
p.I303T
c.908T>C
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