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

1–12 of 52 variants

12 papers

NM_021783.5

p.R57K

c.170G>A

4 papers

NM_021783.5

p.Y8H

c.22T>C

3 papers

NM_021783.5

p.T129A

c.385A>G

2 papers

NM_021783.5

p.G84delFs

c.252delC

2 papers

NM_021783.5

p.T108M

c.323C>T

2 papers

NM_021783.5

p.P112S

c.334C>T

1 paper

NM_021783.5

p.M1T

c.2T>C

1 paper

NM_021783.5

p.R14W

c.40C>T

1 paper

NM_021783.5

p.R14Q

c.41G>A

1 paper

NM_021783.5

p.Q25P

c.74A>C

1 paper

NM_021783.5

p.R47H

c.140G>A

1 paper

NM_021783.5

p.I62T

c.185T>C