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.V88insFs

c.262_263insAG

Surrounding Variants

1 paper

NM_001111.5

p.V88L

c.262G>T

1 paper

NM_001111.5

p.Q87*

c.259C>T

5 papers

NM_001111.5

p.D89G

c.266A>G

1 paper

NM_001111.5

p.D89A

c.266A>C

1 paper

NM_001111.5

p.R91R

c.271A>C

3 papers

NM_001111.5

p.R91fs

c.271_272fs

1 paper

NM_001111.5

p.R84K

c.251G>A

5 papers

NM_001111.5

p.R91delFs

c.271_272delCT

1 paper

NM_001111.5

p.G92S

c.274G>A

1 paper

NM_001111.5

p.R84*

c.250A>T

1 paper

NM_001111.5

p.G92delFs

c.274delC

1 paper

NM_001111.5

p.V93I

c.277G>A