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.N282I

c.845A>T

Surrounding Variants

1 paper

NM_001111.5

p.N282H

c.844A>C

1 paper

NM_001111.5

p.S281G

c.841A>G

2 papers

NM_001111.5

p.T284A

c.850A>G

1 paper

NM_001111.5

p.S285F

c.854C>T

1 paper

NM_001111.5

p.A286V

c.857C>T

1 paper

NM_001111.5

p.L287fs

c.859_860fs

1 paper

NM_001111.5

p.D273_L276del4

c.817_827del12

1 paper

NM_001111.5

p.L276_E277delFs

c.828_829delCC

1 paper

NM_001111.5

p.E288D

c.864A>T

1 paper

NM_001111.5

p.E288D

c.864A>C

1 paper

NM_001111.5

p.D289G

c.866A>G

1 paper

NM_001111.5

p.P290S

c.868C>T