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.I1011M

c.3033C>G

Surrounding Variants

1 paper

NM_001111.5

p.I1011V

c.3031A>G

2 papers

NM_001111.5

p.P1012insFs

c.3035_3036insC

1 paper

NM_001111.5

p.P1012fs

c.3034_3035fs

1 paper

NM_001111.5

p.T1010S

c.3028A>T

5 papers

NM_001111.5

p.E1014*

c.3040G>T

2 papers

NM_001111.5

p.G1009D

c.3026G>A

1 paper

NM_001111.5

p.E1008V

c.3023A>T

1 paper

NM_001111.5

p.E1008A

c.3023A>C

1 paper

NM_001111.5

p.E1008*

c.3022G>T

12 papers

NM_001111.5

p.E1008Q

c.3022G>C

1 paper

NM_001111.5

p.S1015Y

c.3044C>A

1 paper

NM_001111.5

p.G1007A

c.3020G>C