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.N309_S313delFs

c.925_938del14

Surrounding Variants

2 papers

NM_001111.5

p.S314fs

c.940_941fs

1 paper

NM_001111.5

p.A315T

c.943G>A

1 paper

NM_001111.5

p.S314delFs

c.941_942delAG

1 paper

NM_001111.5

p.S313_S314del2

c.937_941del6

1 paper

NM_001111.5

p.A315ins9

c.944_945ins27

1 paper

NM_001111.5

p.S311T

c.931T>A

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.D305_L316delFs

c.914_947del34

1 paper

NM_001111.5

p.A315_L316del2

c.943_947del6

1 paper

NM_001111.5

p.V310L

c.928G>T

1 paper

NM_001111.5

p.K302_F308insFs

c.905_924dup20