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.S101insFs

c.301_302ins2

Surrounding Variants

1 paper

NM_001111.5

p.S101G

c.301A>G

1 paper

NM_001111.5

p.S101I

c.302G>T

1 paper

NM_001111.5

p.S101insFs

c.301_302insAA

1 paper

NM_001111.5

p.R100delins

c.298_299delinsGC

3 papers

NM_001111.5

p.Q102fs

c.304_305fs

14 papers

NM_001111.5

p.R100G

c.298A>G

1 paper

NM_001111.5

p.L99insFs

c.296dupT

5 papers

NM_001111.5

p.Q102fs

c.304_305fs

1 paper

NM_001111.5

p.Q102Q

c.306G>A

3 papers

NM_001111.5

p.Q102delFs

c.305_306delCT

1 paper

NM_001111.5

p.H98insFs

c.294dupT

1 paper

NM_001111.5

p.H98H

c.294T>C