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.I873del1

c.2617_2618delAAT

Surrounding Variants

13 papers

NM_001111.5

p.I872T

c.2615T>C

1 paper

NM_001111.5

p.K876insFs

c.2628dupA

1 paper

NM_001111.5

p.S878T

c.2632T>A

1 paper

NM_001111.5

p.A871V

c.2612C>T

3 papers

NM_001111.5

p.S878fs

c.2632_2633fs

1 paper

NM_001111.5

p.E879K

c.2635G>A

2 papers

NM_001111.5

p.S878delFs

c.2633_2634delAG

1 paper

NM_001111.5

p.A870V

c.2609C>T

20 papers

NM_001111.5

p.A870T

c.2608G>A

1 paper

NM_001111.5

p.D880delFs

c.2638delC

4 papers

NM_001111.5

p.G882fs

c.2644_2645fs

3 papers

NM_001111.5

p.G882delFs

c.2645delC