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.N994N

c.2982T>C

Surrounding Variants

1 paper

NM_001111.5

p.K996E

c.2986A>G

1 paper

NM_001111.5

p.E993*

c.2977G>T

1 paper

NM_001111.5

p.G998A

c.2993G>C

1 paper

NM_001111.5

p.G998E

c.2993G>A

3 papers

NM_001111.5

p.P990fs

c.2968_2969fs

5 papers

NM_001111.5

p.P990R

c.2969C>G

24 papers

NM_001111.5

p.K999N

c.2997G>T

24 papers

NM_001111.5

p.K999N

c.2997G>C

4 papers

NM_001111.5

p.Y989*

c.2967C>G

4 papers

NM_001111.5

p.Y989*

c.2967C>A

1 paper

NM_001111.5

p.L1000L

c.3000C>T

3 papers

NM_001111.5

p.R1001C

c.3001C>T