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.G486D

c.1457G>A

Surrounding Variants

1 paper

NM_001111.5

p.L487F

c.1461G>T

1 paper

NM_001111.5

p.L487F

c.1461G>C

2 papers

NM_001025107.3

p.P193A

c.577C>G

1 paper

NM_001111.5

p.S484G

c.1450A>G

1 paper

NM_001111.5

p.R489W

c.1465C>T

3 papers

NM_001111.5

p.C490*

c.1470T>A

3 papers

NM_001111.5

p.S491*

c.1472C>G

3 papers

NM_001111.5

p.S491*

c.1472C>A

1 paper

NM_001111.5

p.P480R

c.1439C>G

1 paper

NM_001111.5

p.P492P

c.1476C>T

1 paper

NM_001111.5

p.P492delFs

c.1476delG

1 paper

NM_001111.5

p.Y493delFs

c.1477delA