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.Y20*

c.60T>A

Surrounding Variants

1 paper

NM_001111.5

p.G19_Y20del1

c.57_59delTAG

1 paper

NM_001111.5

p.E21*

c.61G>T

1 paper

NM_001111.5

p.Y20insFs

c.58dupT

1 paper

NM_001111.5

p.Y20_E21delFs

c.60_61delCA

1 paper

NM_001111.5

p.G19G

c.57C>G

1 paper

NM_001111.5

p.Q18delFs

c.54delT

1 paper

NM_001111.5

p.R23S

c.69A>T

1 paper

NM_001111.5

p.R23S

c.69A>C

1 paper

NM_001111.5

p.F17S

c.50T>C

1 paper

NM_001111.5

p.Q24*

c.70C>T

1 paper

NM_001111.5

p.P16P

c.48A>G

1 paper

NM_001111.5

p.L25F

c.73C>T