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

6 papers

NM_001111.5

p.C893*

c.2679T>A

Surrounding Variants

6 papers

NM_001111.5

p.V894V

c.2682G>A

1 paper

NM_001111.5

p.R892R

c.2676C>T

5 papers

NM_001111.5

p.R892L

c.2675G>T

22 papers

NM_001111.5

p.R892H

c.2675G>A

1 paper

NM_001111.5

p.K895E

c.2683A>G

1 paper

NM_001111.5

p.N891N

c.2673T>C

1 paper

NM_001111.5

p.G896R

c.2686G>C

1 paper

NM_001111.5

p.G896R

c.2686G>A

1 paper

NM_001111.5

p.G896A

c.2687G>C

1 paper

NM_001111.5

p.G896E

c.2687G>A

1 paper

NM_001111.5

p.D897_S898insCCA

c.2689_2693ins9

1 paper

NM_001111.5

p.G890Splc

c.2669-2A>G