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

4 papers

NM_001111.5

p.Y1112fs

c.3334_3335fs

Surrounding Variants

25 papers

NM_001111.5

p.D1113H

c.3337G>C

1 paper

NM_001111.5

p.Y1112delFs

c.3335_3336delAT

17 papers

NM_001111.5

p.Y1112F

c.3335A>T

1 paper

NM_001111.5

p.Y1112S

c.3335A>C

1 paper

NM_001111.5

p.I1111L

c.3331A>T

1 paper

NM_001111.5

p.I1111L

c.3331A>C

1 paper

NM_001111.5

p.K1115E

c.3343A>G

3 papers

NM_001111.5

p.V1109F

c.3325G>T

1 paper

NM_001111.5

p.K1105_V1106Splc

c.3316-1G>C

1 paper

NM_001111.5

p.K1120E

c.3358A>G

2 papers

NM_001111.5

p.K1120insFs

c.3359_3360insT

3 papers

NM_001111.5

p.T1121_K1122insFs

c.3363_3364insT