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.T497_E498insFs

c.1491_1492insA

Surrounding Variants

4 papers

NM_001111.5

p.T497fs

c.1489_1490fs

2 papers

NM_001111.5

p.E498fs

c.1492_1493fs

2 papers

NM_001111.5

p.E498delFs

c.1493_1494delCT

1 paper

NM_001111.5

p.T497_E498del2

c.1489_1493del6

1 paper

NM_001111.5

p.L496L

c.1488G>T

2 papers

NM_001111.5

p.Q500*

c.1498C>T

1 paper

NM_001111.5

p.L501L

c.1501C>T

2 papers

NM_001111.5

p.Y493*

c.1479C>G

2 papers

NM_001111.5

p.Y493*

c.1479C>A

1 paper

NM_001111.5

p.K502N

c.1506G>T

1 paper

NM_001111.5

p.K502N

c.1506G>C

1 paper

NM_001111.5

p.Y493delFs

c.1477delA