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.H265D

c.793C>G

Surrounding Variants

1 paper

NM_001111.5

p.H265Y

c.793C>T

2 papers

NM_001111.5

p.S264fs

c.790_791fs

1 paper

NM_001111.5

p.S264G

c.790A>G

2 papers

NM_001111.5

p.D263N

c.787G>A

1 paper

NM_001111.5

p.Q267*

c.799C>T

1 paper

NM_001111.5

p.P262fs

c.784_785fs

2 papers

NM_001111.5

p.P262R

c.785C>G

1 paper

NM_001111.5

p.P262insFs

c.785_786insG

1 paper

NM_001111.5

p.P262S

c.784C>T

1 paper

NM_001111.5

p.P262_D263insAG

c.784_788ins6

1 paper

NM_001111.5

p.P262fs

c.784_785fs

1 paper

NM_001111.5

p.R261insFs

c.782dupG