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

20 papers

NM_001111.5

p.N173S

c.518A>G

Surrounding Variants

1 paper

NM_001111.5

p.N173T

c.518A>C

1 paper

NM_001111.5

p.R174*

c.520C>T

1 paper

NM_001111.5

p.I172I

c.516C>A

1 paper

NM_001111.5

p.E171A

c.512A>C

2 papers

NM_001111.5

p.E171*

c.511G>T

3 papers

NM_001111.5

p.L176V

c.526T>G

2 papers

NM_001111.5

p.Y177F

c.530A>T

1 paper

NM_001111.5

p.K169_Y177del9

c.505_530del27

2 papers

NM_001111.5

p.S178F

c.533C>T

1 paper

NM_001111.5

p.P168L

c.503C>T

1 paper

NM_001111.5

p.P168Q

c.503C>A

1 paper

NM_001111.5

p.S178S

c.534C>T