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.L324F

c.970C>T

Surrounding Variants

1 paper

NM_001111.5

p.L324insFs

c.970_971dupCT

1 paper

NM_001111.5

p.N317_N321del5

c.949_962del15

1 paper

NM_001111.5

p.T325T

c.975C>T

1 paper

NM_001111.5

p.K326*

c.976A>T

2 papers

NM_001111.5

p.K326E

c.976A>G

10 papers

NM_001111.5

p.R328*

c.982C>T

1 paper

NM_001111.5

p.R328Q

c.983G>A

1 paper

NM_001111.5

p.A319D

c.956C>A

1 paper

NM_001111.5

p.A319S

c.955G>T

1 paper

NM_001111.5

p.L318*

c.953T>A

1 paper

NM_001111.5

p.S311_N317insFs

c.932_951dup20

1 paper

NM_001111.5

p.I330T

c.989T>C