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.L133delFs

c.397delG

Surrounding Variants

1 paper

NM_001111.5

p.L133Q

c.398T>A

1 paper

NM_001111.5

p.L133fs

c.397_398fs

1 paper

NM_001111.5

p.E132G

c.395A>G

1 paper

NM_001111.5

p.Q131Q

c.393G>A

1 paper

NM_001111.5

p.F130F

c.390C>T

1 paper

NM_001111.5

p.F130L

c.390C>G

1 paper

NM_001111.5

p.F130L

c.390C>A

1 paper

NM_001111.5

p.S128_H129del2

c.382_386del6

1 paper

NM_001111.5

p.F130L

c.388T>C

1 paper

NM_001111.5

p.Y136Y

c.408C>T

1 paper

NM_001111.5

p.Q131_Y136insFs

c.393_408dup16

1 paper

NM_001111.5

p.D138G

c.413A>G