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.P119R

c.356C>G

Surrounding Variants

1 paper

NM_001111.5

p.P119S

c.355C>T

1 paper

NM_001111.5

p.Q120R

c.359A>G

1 paper

NM_001111.5

p.Q120Fs

c.359delinsACFs

1 paper

NM_001111.5

p.G122G

c.366T>C

2 papers

NM_001111.5

p.R114H

c.341G>A

1 paper

NM_001111.5

p.G122_V123ins0

c.366_368dupTGT

1 paper

NM_001111.5

p.Q120_D124del0

c.359_370del12

2 papers

NM_001111.5

p.R114C

c.340C>T

1 paper

NM_001111.5

p.C125S

c.373T>A

1 paper

NM_001111.5

p.C125S

c.374G>C

1 paper

NM_001111.5

p.C125Y

c.374G>A

1 paper

NM_001111.5

p.S112_D124del13

c.334_371del39