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.P965Q

c.2894C>A

Surrounding Variants

6 papers

NM_001111.5

p.P965L

c.2894C>T

10 papers

NM_001111.5

p.C966F

c.2897G>T

1 paper

NM_001111.5

p.C966S

c.2897G>C

1 paper

NM_001111.5

p.A964V

c.2891C>T

1 paper

NM_001111.5

p.T963fs

c.2887_2888fs

1 paper

NM_001111.5

p.D968H

c.2902G>C

5 papers

NM_001111.5

p.D968N

c.2902G>A

1 paper

NM_001111.5

p.S962Splc

c.2886-1G>T

1 paper

NM_001111.5

p.S962Splc

c.2886-1G>A

1 paper

NM_001111.5

p.S962Splc

c.2886-2A>C

7 papers

NM_001111.5

p.S962Splc

c.2886-5T>C

1 paper

NM_001111.5

p.A970T

c.2908G>A