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.F972delFs

c.2915_2916delAA

Surrounding Variants

1 paper

NM_001111.5

p.T963_S975insFs

c.2887_2924dup38

1 paper

NM_001111.5

p.D973_S975del0

c.2917_2925del9

1 paper

NM_001111.5

p.A970T

c.2908G>A

1 paper

NM_001111.5

p.C976*

c.2928C>A

4 papers

NM_001111.5

p.S977delFs

c.2929delT

1 paper

NM_001111.5

p.S977S

c.2931C>T

3 papers

NM_001111.5

p.S977fs

c.2929_2930fs

1 paper

NM_001111.5

p.D968H

c.2902G>C

5 papers

NM_001111.5

p.D968N

c.2902G>A

1 paper

NM_001111.5

p.R979C

c.2935C>T

1 paper

NM_001111.5

p.R979H

c.2936G>A

10 papers

NM_001111.5

p.C966F

c.2897G>T