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.K196K

c.588A>G

Surrounding Variants

1 paper

NM_001111.5

p.K196E

c.586A>G

2 papers

NM_001111.5

p.I197I

c.591C>T

2 papers

NM_001111.5

p.A198T

c.592G>A

1 paper

NM_001111.5

p.A198V

c.593C>T

1 paper

NM_001111.5

p.P192insFs

c.575dupC

3 papers

NM_001111.5

p.P193L

c.578C>T

101 papers

NM_001111.5

p.P193A

c.577C>G

NM_001365045.1

p.P202A

c.604C>G

2 papers

NM_001111.5

p.P193T

c.577C>A

1 paper

NM_001111.5

p.S200S

c.600C>T

1 paper

NM_001111.5

p.S200ins0

c.598_600dupTCC

3 papers

NM_001111.5

p.P192A

c.574C>G

2 papers

NM_001111.5

p.Q202E

c.604C>G