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.L1052P

c.3155T>C

Surrounding Variants

2 papers

NM_001111.5

p.A1051V

c.3152C>T

3 papers

NM_001111.5

p.L1053fs

c.3157_3158fs

2 papers

NM_001111.5

p.L1053delFs

c.3159delC

1 paper

NM_001111.5

p.L1048_L1053del6

c.3142_3158del18

2 papers

NM_001111.5

p.Q1049*

c.3145C>T

1 paper

NM_001111.5

p.F1056V

c.3166T>G

1 paper

NM_001111.5

p.L1048P

c.3143T>C

1 paper

NM_001111.5

p.L1057L

c.3169C>T

2 papers

NM_001111.5

p.G1047delFs

c.3140delC

6 papers

NM_001111.5

p.L1057delFs

c.3169delG

2 papers

NM_001111.5

p.G1047A

c.3140G>C

2 papers

NM_001111.5

p.G1047D

c.3140G>A