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.H910Y

c.2728C>T

Surrounding Variants

1 paper

NM_001111.5

p.C909*

c.2727C>A

1 paper

NM_001111.5

p.H910R

c.2729A>G

6 papers

NM_001111.5

p.H910Q

c.2730T>G

6 papers

NM_001111.5

p.H910Q

c.2730T>A

1 paper

NM_001111.5

p.A911T

c.2731G>A

3 papers

NM_001111.5

p.D908Y

c.2722G>T

42 papers

NM_001111.5

p.E912A

c.2735A>C

1 paper

NM_001111.5

p.N907S

c.2720A>G

4 papers

NM_001111.5

p.I913R

c.2738T>G

1 paper

NM_001111.5

p.V906V

c.2718C>T

8 papers

NM_001111.5

p.V906F

c.2716G>T

2 papers

NM_001111.5

p.I914delFs

c.2742delG