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

4 papers

NM_001111.5

p.D458fs

c.1372_1373fs

Surrounding Variants

2 papers

NM_001111.5

p.D457_D458insFs

c.1371_1372ins8

1 paper

NM_001111.5

p.D462N

c.1384G>A

3 papers

NM_001111.5

p.D462fs

c.1384_1385fs

1 paper

NM_001111.5

p.W454L

c.1361G>T

1 paper

NM_001111.5

p.L463L

c.1389G>A

2 papers

NM_001111.5

p.D462_N464delFs

c.1386_1390del5

1 paper

NM_001111.5

p.S465G

c.1393A>G

1 paper

NM_001111.5

p.N451delFs

c.1352delT

1 paper

NM_001111.5

p.N451fs

c.1351_1352fs

1 paper

NM_001111.5

p.R467H

c.1400G>A

1 paper

NM_001111.5

p.E450K

c.1348G>A

1 paper

NM_001111.5

p.R467R

c.1401C>T