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

2 papers

NM_021783.5

p.T108M

c.323C>T

Surrounding Variants

1 paper

NM_021783.5

p.K109N

c.327G>T

1 paper

NM_021783.5

p.K109N

c.327G>C

1 paper

NM_021783.5

p.Q110P

c.329A>C

1 paper

NM_021783.5

p.Q110H

c.330G>T

1 paper

NM_021783.5

p.Q110H

c.330G>C

2 papers

NM_021783.5

p.P112S

c.334C>T

1 paper

NM_021783.5

p.E103*

c.307G>T

1 paper

NM_021783.5

p.Q102*

c.304C>T

1 paper

NM_021783.5

p.D101D

c.303C>T

1 paper

NM_021783.5

p.Q117*

c.349C>T

1 paper

NM_021783.5

p.R92Q

c.275G>A

1 paper

NM_021783.5

p.R89S

c.267G>T