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

8 papers

NM_001111.5

p.R426*

c.1276A>T

Surrounding Variants

1 paper

NM_001111.5

p.A425T

c.1273G>A

1 paper

NM_001111.5

p.P427L

c.1280C>T

1 paper

NM_001111.5

p.P429T

c.1285C>A

1 paper

NM_001111.5

p.A430T

c.1288G>A

2 papers

NM_001111.5

p.L432Q

c.1295T>A

3 papers

NM_001111.5

p.K433insFs

c.1297_1298insTG

1 paper

NM_001111.5

p.K418R

c.1253A>G

6 papers

NM_001111.5

p.K433fs

c.1297_1298fs

1 paper

NM_001111.5

p.K418Q

c.1252A>C

1 paper

NM_001111.5

p.V416A

c.1247T>C

1 paper

NM_001111.5

p.V436I

c.1306G>A

1 paper

NM_001111.5

p.P415Fs

c.1244delinsACFs