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.V404fs

c.1210_1211fs

Surrounding Variants

2 papers

NM_001111.5

p.V404delFs

c.1211delA

1 paper

NM_001111.5

p.T406A

c.1216A>G

2 papers

NM_001111.5

p.N401_N402delFs

c.1202_1205del4

3 papers

NM_001111.5

p.N401fs

c.1201_1202fs

1 paper

NM_001111.5

p.V409L

c.1225G>T

1 paper

NM_001111.5

p.V409L

c.1225G>C

1 paper

NM_001111.5

p.S400*

c.1199C>A

1 paper

NM_001111.5

p.E410G

c.1229A>G

1 paper

NM_001111.5

p.G412R

c.1234G>A

2 papers

NM_001111.5

p.S397*

c.1190C>G

2 papers

NM_001111.5

p.S397*

c.1190C>A

1 paper

NM_001111.5

p.E414*

c.1240G>T