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.R328Q

c.983G>A

Surrounding Variants

10 papers

NM_001111.5

p.R328*

c.982C>T

1 paper

NM_001111.5

p.I330T

c.989T>C

1 paper

NM_001111.5

p.K326*

c.976A>T

2 papers

NM_001111.5

p.K326E

c.976A>G

1 paper

NM_001111.5

p.I330M

c.990A>G

1 paper

NM_001111.5

p.T325T

c.975C>T

1 paper

NM_001111.5

p.N331D

c.991A>G

1 paper

NM_001111.5

p.N331H

c.991A>C

1 paper

NM_001111.5

p.L324insFs

c.970_971dupCT

1 paper

NM_001193495.2

p.A37S

c.109G>T

1 paper

NM_001111.5

p.A332A

c.996T>C

1 paper

NM_001111.5

p.L324F

c.970C>T