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.L847L

c.2541G>C

Surrounding Variants

1 paper

NM_001111.5

p.L847L

c.2541G>A

1 paper

NM_001111.5

p.H849insFs

c.2545dupC

1 paper

NM_001111.5

p.R850Q

c.2549G>A

1 paper

NM_001111.5

p.A845T

c.2533G>A

1 paper

NM_001111.5

p.I844V

c.2530A>G

1 paper

NM_001111.5

p.C851C

c.2553C>T

1 paper

NM_001111.5

p.C851*

c.2553C>A

1 paper

NM_001111.5

p.Q843R

c.2528A>G

1 paper

NM_001111.5

p.Q843*

c.2527C>T

2 papers

NM_001111.5

p.H841L

c.2522A>T

3 papers

NM_001111.5

p.L855insFs

c.2564_2565insT

7 papers

NM_001111.5

p.L855fs

c.2563_2564fs