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

2 papers

NM_001111.5

p.N205_Q206insFs

c.615_616insA

Surrounding Variants

2 papers

NM_001111.5

p.N205fs

c.613_614fs

1 paper

NM_001111.5

p.H207Y

c.619C>T

1 paper

NM_001111.5

p.H207delFs

c.620delT

1 paper

NM_001111.5

p.G209R

c.625G>A

2 papers

NM_001111.5

p.Q202E

c.604C>G

1 paper

NM_001111.5

p.G209_V210insFs

c.625_628dup4

1 paper

NM_001111.5

p.S200ins0

c.598_600dupTCC

1 paper

NM_001111.5

p.S200S

c.600C>T

1 paper

NM_001111.5

p.V211I

c.631G>A

2 papers

NM_001111.5

p.V211_R212insFs

c.633_634insT

2 papers

NM_001111.5

p.V211fs

c.631_632fs

1 paper

NM_001111.5

p.R212*

c.634A>T