Varaico: Literature-Extracted Genetic Variants

EDA2R

67 papers

RefSeq Summary

The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. Thi...

Pfam Domains

TNFR_c6aa 3–41UCSCTNFR/NGFR cysteine-rich region

TNFR_c6aa 44–83UCSCTNFR/NGFR cysteine-rich region

TNR19_TNFR_Cys_secondaa 88–118UCSCTNFRSF19 second TNFR Cys domain

Gene Aliases

HGNC Name

ectodysplasin A2 receptor

HGNC Alias Symbols

XEDAR; EDA-A2R; EDAA2R; TNFRSF27

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_021783.5

p.T129A

c.385A>G

Surrounding Variants

1 paper

NM_021783.5

p.V125L

c.373G>T

1 paper

NM_021783.5

p.V125L

c.373G>C

1 paper

NM_021783.5

p.L124I

c.370T>A

1 paper

NM_021783.5

p.L155L

c.463C>T

1 paper

NM_021783.5

p.G156V

c.467G>T

1 paper

NM_021783.5

p.Q117*

c.349C>T

2 papers

NM_021783.5

p.P112S

c.334C>T

1 paper

NM_021783.5

p.Q110H

c.330G>T

1 paper

NM_021783.5

p.Q110H

c.330G>C

1 paper

NM_021783.5

p.Q110P

c.329A>C

1 paper

NM_021783.5

p.K109N

c.327G>T

1 paper

NM_021783.5

p.K109N

c.327G>C