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.E292_F293insGTA

c.874_878ins9

Surrounding Variants

2 papers

NM_001111.5

p.E292G

c.875A>G

1 paper

NM_001111.5

p.L291P

c.872T>C

1 paper

NM_001111.5

p.F293I

c.877T>A

1 paper

NM_001111.5

p.P290P

c.870T>C

1 paper

NM_001111.5

p.P290L

c.869C>T

1 paper

NM_001111.5

p.L294L

c.880T>C

1 paper

NM_001111.5

p.P290S

c.868C>T

2 papers

NM_001111.5

p.P290A

c.868C>G

1 paper

NM_001111.5

p.E279_D289del11

c.835_866del33

1 paper

NM_001111.5

p.D289G

c.866A>G

1 paper

NM_001111.5

p.E288D

c.864A>T

1 paper

NM_001111.5

p.E288D

c.864A>C