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.E301_Y306delFs

c.902_918del17

Surrounding Variants

3 papers

NM_001111.5

p.D305_Y306del2

c.913_917del6

1 paper

NM_001111.5

p.F308fs

c.922_923fs

1 paper

NM_001111.5

p.Y306_L307delFs

c.918_919delGA

1 paper

NM_001111.5

p.D305N

c.913G>A

1 paper

NM_001111.5

p.N309I

c.926A>T

1 paper

NM_001111.5

p.N309S

c.926A>G

1 paper

NM_001111.5

p.K302_F308insFs

c.905_924dup20

1 paper

NM_001111.5

p.V310L

c.928G>T

1 paper

NM_001111.5

p.I303M

c.909C>G

1 paper

NM_001111.5

p.Y306_V310insFs

c.916_928dup13

1 paper

NM_001111.5

p.V310V

c.930G>A

1 paper

NM_001111.5

p.S311T

c.931T>A