Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.C346R

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.C346R
c.1036T>C
Surrounding Variants
2 papers
NM_001399.5
p.C346fs
c.1036_1037fs
1 paper
NM_001399.5
p.C346fs
c.1036_1037fs
5 papers
NM_001399.5
p.C346Y
c.1037G>A
5 papers
NM_001399.5
p.C346W
c.1038C>G
3 papers
NM_001399.5
p.C346delFs
c.1036delT
1 paper
NM_001399.5
p.Y347_T348delFs
c.1041_1042delTA
1 paper
NM_001399.5
p.T345A
c.1033A>G
4 papers
NM_001399.5
p.T348A
c.1042A>G
12 papers
NM_001399.5
p.Y343C
c.1028A>G
1 paper
NM_001399.5
p.Y343F
c.1028A>T
1 paper
NM_001005609.2
p.T346T
c.1038C>G
1 paper
NM_001399.5
p.T348T
c.1044C>T
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