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.S35S

c.105C>T

Surrounding Variants

1 paper

NM_001111.5

p.P36S

c.106C>T

1 paper

NM_001111.5

p.S35A

c.103T>G

1 paper

NM_001111.5

p.S34C

c.101C>G

1 paper

NM_001111.5

p.G33A

c.98G>C

1 paper

NM_001111.5

p.S38insFs

c.112_113ins5

1 paper

NM_001111.5

p.S38R

c.114T>A

1 paper

NM_001111.5

p.P32P

c.96A>G

1 paper

NM_001111.5

p.P32R

c.95C>G

3 papers

NM_001111.5

p.P32S

c.94C>T

1 paper

NM_001111.5

p.G31insFs

c.92dupG

2 papers

NM_001111.5

p.G31G

c.93G>A

1 paper

NM_001111.5

p.L40L

c.118C>T