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.H98L

c.293A>T

Surrounding Variants

1 paper

NM_001111.5

p.H98H

c.294T>C

1 paper

NM_001111.5

p.H98ins1

c.292_293ins3

1 paper

NM_001111.5

p.H98ins1

c.292_293insGTA

1 paper

NM_001111.5

p.H98insFs

c.294dupT

1 paper

NM_001111.5

p.V97M

c.289G>A

1 paper

NM_001111.5

p.L99insFs

c.296dupT

1 paper

NM_001111.5

p.G96G

c.288C>T

14 papers

NM_001111.5

p.R100G

c.298A>G

1 paper

NM_001111.5

p.G96D

c.287G>A

1 paper

NM_001111.5

p.R100delins

c.298_299delinsGC

1 paper

NM_001111.5

p.R95S

c.285G>T

1 paper

NM_001111.5

p.R95S

c.285G>C