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.D1147V

c.3440A>T

Surrounding Variants

1 paper

NM_001111.5

p.D1147insFs

c.3440_3441insG

1 paper

NM_001111.5

p.G1148V

c.3443G>T

1 paper

NM_001111.5

p.T1145fs

c.3433_3434fs

1 paper

NM_001111.5

p.Y1134_G1144del11

c.3400_3431del33

2 papers

NM_001111.5

p.G1148Splc

c.3443+8G>A

1 paper

NM_001111.5

p.R1143K

c.3428G>A

1 paper

NM_001111.5

p.G1141S

c.3421G>A

1 paper

NM_001111.5

p.D1140D

c.3420C>T

3 papers

NM_001111.5

p.D1140G

c.3419A>G

1 paper

NM_001111.5

p.L1139L

c.3415C>T

1 paper

NM_001111.5

p.Y1134C

c.3401A>G

1 paper

NM_001111.5

p.A1131V

c.3392C>T