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

11 papers

NM_001111.5

p.K1039R

c.3116A>G

Surrounding Variants

2 papers

NM_001111.5

p.K1039T

c.3116A>C

1 paper

NM_001111.5

p.I1040I

c.3120C>T

7 papers

NM_001111.5

p.R1042C

c.3124C>T

7 papers

NM_001111.5

p.C1036S

c.3107G>C

5 papers

NM_001111.5

p.R1042H

c.3125G>A

1 paper

NM_001111.5

p.C1036Y

c.3107G>A

7 papers

NM_001111.5

p.C1036S

c.3106T>A

1 paper

NM_001111.5

p.R1042delFs

c.3125delC

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

1 paper

NM_001111.5

p.N1044S

c.3131A>G