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.T157S

c.469A>T

Surrounding Variants

1 paper

NM_001111.5

p.T157fs

c.469_470fs

1 paper

NM_001111.5

p.T156insFs

c.467_468insT

1 paper

NM_001111.5

p.T157delFs

c.470delG

1 paper

NM_001111.5

p.A158V

c.473C>T

1 paper

NM_001111.5

p.H159Y

c.475C>T

1 paper

NM_001111.5

p.K154K

c.462G>A

1 paper

NM_001111.5

p.D160Y

c.478G>T

1 paper

NM_001111.5

p.E152_G153del2

c.454_458del6

1 paper

NM_001111.5

p.L161L

c.481C>T

1 paper

NM_001111.5

p.L150_G151del2

c.448_452del6

1 paper

NM_001111.5

p.G163V

c.488G>T

1 paper

NM_001111.5

p.D160_S162del3

c.478_485del9