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.R345R

c.1035A>G

Surrounding Variants

2 papers

NM_001111.5

p.Q346*

c.1036C>T

1 paper

NM_001111.5

p.Y344C

c.1031A>G

1 paper

NM_001111.5

p.V343D

c.1028T>A

1 paper

NM_001111.5

p.T348A

c.1042A>G

1 paper

NM_001111.5

p.T348P

c.1042A>C

1 paper

NM_001111.5

p.D342Y

c.1024G>T

1 paper

NM_001111.5

p.Q340R

c.1019A>G

3 papers

NM_001111.5

p.Q340*

c.1018C>T

1 paper

NM_001111.5

p.R339K

c.1016G>A

1 paper

NM_001111.5

p.R339G

c.1015A>G

2 papers

NM_001111.5

p.W353R

c.1057T>C

2 papers

NM_001111.5

p.W353R

c.1057T>A