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.A1131V

c.3392C>T

Surrounding Variants

1 paper

NM_001111.5

p.C1129*

c.3387T>A

3 papers

NM_001111.5

p.C1129G

c.3385T>G

1 paper

NM_001111.5

p.C1129R

c.3385T>C

2 papers

NM_001111.5

p.W1128C

c.3384G>T

2 papers

NM_001111.5

p.W1128C

c.3384G>C

1 paper

NM_001111.5

p.Y1134C

c.3401A>G

1 paper

NM_001111.5

p.N1127delFs

c.3380delT

1 paper

NM_001111.5

p.L1139L

c.3415C>T

3 papers

NM_001111.5

p.K1122fs

c.3364_3365fs

1 paper

NM_001111.5

p.K1122M

c.3365A>T

3 papers

NM_001111.5

p.D1140G

c.3419A>G

1 paper

NM_001111.5

p.D1140D

c.3420C>T