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.H216insFs

c.646_647insCC

Surrounding Variants

8 papers

NM_001111.5

p.H216fs

c.646_647fs

1 paper

NM_001111.5

p.G215G

c.645T>C

1 paper

NM_001111.5

p.G215G

c.645T>A

1 paper

NM_001111.5

p.S217insFs

c.649_650insG

2 papers

NM_001111.5

p.S217N

c.650G>A

1 paper

NM_001111.5

p.G215D

c.644G>A

1 paper

NM_001111.5

p.G215C

c.643G>T

1 paper

NM_001111.5

p.G215R

c.643G>C

4 papers

NM_001111.5

p.G215S

c.643G>A

2 papers

NM_001111.5

p.D214N

c.640G>A

1 paper

NM_001111.5

p.G219R

c.655G>C

1 paper

NM_001111.5

p.G219R

c.655G>A