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.K366E

c.1096A>G

Surrounding Variants

1 paper

NM_001111.5

p.K366fs

c.1096_1097fs

1 paper

NM_001111.5

p.I365I

c.1095C>T

2 papers

NM_001111.5

p.K366fs

c.1096_1097fs

2 papers

NM_001111.5

p.K366delFs

c.1096_1097delTT

2 papers

NM_001111.5

p.R367G

c.1099A>G

1 paper

NM_001111.5

p.R367R

c.1101A>G

1 paper

NM_001111.5

p.M363T

c.1088T>C

1 paper

NM_001111.5

p.T369P

c.1105A>C

1 paper

NM_001111.5

p.R362delFs

c.1084_1085delCT

1 paper

NM_001111.5

p.T369M

c.1106C>T

3 papers

NM_001111.5

p.T369insFs

c.1106_1107insA

3 papers

NM_001111.5

p.T369fs

c.1105_1106fs