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

5 papers

NM_001111.5

p.T856fs

c.2566_2567fs

Surrounding Variants

3 papers

NM_001111.5

p.N857fs

c.2569_2570fs

5 papers

NM_001111.5

p.L855_T856delFs

c.2565_2568del4

3 papers

NM_001111.5

p.L855insFs

c.2564_2565insT

7 papers

NM_001111.5

p.L855fs

c.2563_2564fs

2 papers

NM_001111.5

p.L855delFs

c.2563_2564delAG

2 papers

NM_001111.5

p.T856_N857delFs

c.2568_2571del4

1 paper

NM_001111.5

p.C851C

c.2553C>T

1 paper

NM_001111.5

p.C851*

c.2553C>A

1 paper

NM_001111.5

p.R850Q

c.2549G>A

1 paper

NM_001111.5

p.H849insFs

c.2545dupC

1 paper

NM_001111.5

p.L847L

c.2541G>C

1 paper

NM_001111.5

p.L847L

c.2541G>A