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

2 papers

NM_001111.5

p.R1030delFs

c.3089_3090delTC

Surrounding Variants

1 paper

NM_001111.5

p.L1031P

c.3092T>C

1 paper

NM_001111.5

p.R1032H

c.3095G>A

1 paper

NM_001111.5

p.E1029insFs

c.3085_3086insG

1 paper

NM_001111.5

p.E1029K

c.3085G>A

1 paper

NM_001111.5

p.G1028A

c.3083G>C

6 papers

NM_001111.5

p.M1034V

c.3100A>G

1 paper

NM_001111.5

p.L1027L

c.3081C>T

1 paper

NM_001111.5

p.M1034I

c.3102G>T

1 paper

NM_001111.5

p.M1034I

c.3102G>C

1 paper

NM_001111.5

p.M1034I

c.3102G>A

7 papers

NM_001111.5

p.C1036S

c.3106T>A

2 papers

NM_001111.5

p.R1026W

c.3076C>T