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.P480R

c.1439C>G

Surrounding Variants

1 paper

NM_001111.5

p.E478*

c.1432G>T

1 paper

NM_001111.5

p.S484G

c.1450A>G

1 paper

NM_001111.5

p.A475S

c.1423G>T

1 paper

NM_001111.5

p.G486D

c.1457G>A

18 papers

NM_001111.5

p.R474*

c.1420C>T

1 paper

NM_001111.5

p.L487F

c.1461G>T

1 paper

NM_001111.5

p.L487F

c.1461G>C

2 papers

NM_001025107.3

p.P193A

c.577C>G

2 papers

NM_001111.5

p.E472K

c.1414G>A

NM_001193495.2

p.E177K

c.529G>A

1 paper

NM_001111.5

p.G471fs

c.1411_1412fs

1 paper

NM_001111.5

p.G471G

c.1413T>C

1 paper

NM_001111.5

p.R489W

c.1465C>T