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.D231N

c.691G>A

Surrounding Variants

1 paper

NM_001111.5

p.D231A

c.692A>C

1 paper

NM_001111.5

p.E228_E230del3

c.682_689del9

1 paper

NM_001111.5

p.E230A

c.689A>C

1 paper

NM_001111.5

p.E230K

c.688G>A

1 paper

NM_001111.5

p.D231insFs

c.693dupC

1 paper

NM_001111.5

p.R232insFs

c.695_696ins1

1 paper

NM_001111.5

p.R232K

c.695G>A

1 paper

NM_001111.5

p.R232insFs

c.695_696insG

1 paper

NM_001111.5

p.N233S

c.698A>G

1 paper

NM_001111.5

p.L227*

c.680T>A

1 paper

NM_001111.5

p.P225P

c.675G>A

1 paper

NM_001111.5

p.V237V

c.711C>A