Varaico: Literature-Extracted Genetic Variants

ADAR

643 papers

RefSeq Summary

This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations ...

Pfam Domains

z-alphaaa 135–201UCSCAdenosine deaminase z-alpha domain

z-alphaaa 295–359UCSCAdenosine deaminase z-alpha domain

dsrmaa 504–569UCSCDouble-stranded RNA binding motif

dsrmaa 615–680UCSCDouble-stranded RNA binding motif

dsrmaa 727–792UCSCDouble-stranded RNA binding motif

A_deaminaa 886–1215UCSCAdenosine-deaminase (editase) domain

Gene Aliases

HGNC Name

adenosine deaminase RNA specific

HGNC Previous Symbol

G1P1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001111.5

p.P290_D295del0

c.868_885del18

Surrounding Variants

2 papers

NM_001111.5

p.M296L

c.886A>T

2 papers

NM_001111.5

p.M296L

c.886A>C

1 paper

NM_001111.5

p.A297S

c.889G>T

1 paper

NM_001111.5

p.A297T

c.889G>A

1 paper

NM_001111.5

p.L294L

c.880T>C

1 paper

NM_001111.5

p.E298*

c.892G>T

1 paper

NM_001111.5

p.E298K

c.892G>A

1 paper

NM_001111.5

p.E298G

c.893A>G

1 paper

NM_001111.5

p.F293I

c.877T>A

1 paper

NM_001111.5

p.E298_I299ins0

c.894_896dupGAT

2 papers

NM_001111.5

p.E292G

c.875A>G

1 paper

NM_001111.5

p.E292_F293insGTA

c.874_878ins9