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.G166delFs

c.497_498delCC

Surrounding Variants

1 paper

NM_001111.5

p.G166G

c.498G>T

1 paper

NM_001111.5

p.T167T

c.501T>A

1 paper

NM_001111.5

p.T167delFs

c.500delG

1 paper

NM_001111.5

p.P168L

c.503C>T

1 paper

NM_001111.5

p.P168Q

c.503C>A

1 paper

NM_001111.5

p.K164*

c.490A>T

1 paper

NM_001111.5

p.K164E

c.490A>G

1 paper

NM_001111.5

p.G163G

c.489G>T

1 paper

NM_001111.5

p.G163V

c.488G>T

1 paper

NM_001111.5

p.D160_S162del3

c.478_485del9

2 papers

NM_001111.5

p.E171*

c.511G>T

1 paper

NM_001111.5

p.E171A

c.512A>C