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

1–12 of 1229 variants

100 papers

NM_001111.5

p.P193A

c.577C>G

80 papers

NM_001111.5

p.G1007R

c.3019G>C

80 papers

NM_001111.5

p.G1007R

c.3019G>A

42 papers

NM_001111.5

p.E912A

c.2735A>C

36 papers

NM_001111.5

p.G1007R

c.3019G>A

25 papers

NM_001111.5

p.D1113H

c.3337G>C

24 papers

NM_001111.5

p.K999N

c.2997G>T

24 papers

NM_001111.5

p.K999N

c.2997G>C

23 papers

NM_001111.5

p.K384R

c.1151A>G

22 papers

NM_001111.5

p.R892H

c.2675G>A

20 papers

NM_001111.5

p.N173S

c.518A>G

20 papers

NM_001111.5

p.A870T

c.2608G>A