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

3 papers

NM_001111.5

p.V883insFs

c.2647_2648dupGT

Surrounding Variants

3 papers

NM_001111.5

p.V884fs

c.2650_2651fs

4 papers

NM_001111.5

p.G882fs

c.2644_2645fs

3 papers

NM_001111.5

p.G882delFs

c.2645delC

1 paper

NM_001111.5

p.V885I

c.2653G>A

4 papers

NM_001111.5

p.S886R

c.2656A>C

1 paper

NM_001111.5

p.S886N

c.2657G>A

4 papers

NM_001111.5

p.S886R

c.2658C>G

4 papers

NM_001111.5

p.S886R

c.2658C>A

1 paper

NM_001111.5

p.D880delFs

c.2638delC

1 paper

NM_001111.5

p.L887W

c.2660T>G

1 paper

NM_001111.5

p.E879K

c.2635G>A

2 papers

NM_001111.5

p.S878delFs

c.2633_2634delAG