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

2 papers

NM_001111.5

p.N439K

c.1317T>A

Surrounding Variants

2 papers

NM_001111.5

p.N439K

c.1317T>G

2 papers

NM_001111.5

p.N439D

c.1315A>G

2 papers

NM_001111.5

p.Y438*

c.1314C>G

2 papers

NM_001111.5

p.Y438*

c.1314C>A

2 papers

NM_001111.5

p.P441S

c.1321C>T

5 papers

NM_001111.5

p.P441fs

c.1321_1322fs

4 papers

NM_001111.5

p.P441delFs

c.1323delG

1 paper

NM_001111.5

p.S442L

c.1325C>T

3 papers

NM_001111.5

p.S442*

c.1325C>G

2 papers

NM_001111.5

p.S442*

c.1325C>A

1 paper

NM_001111.5

p.V436I

c.1306G>A

1 paper

NM_001111.5

p.G445V

c.1334G>T