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.D357fs

c.1069_1070fs

Surrounding Variants

3 papers

NM_001111.5

p.K358*

c.1072A>T

1 paper

NM_001111.5

p.K358E

c.1072A>G

2 papers

NM_001111.5

p.T356insFs

c.1068dupA

3 papers

NM_001111.5

p.L355_T356delFs

c.1065_1068del4

11 papers

NM_001111.5

p.K359fs

c.1075_1076fs

1 paper

NM_001111.5

p.K359R

c.1076A>G

1 paper

NM_001111.5

p.K359N

c.1077G>T

4 papers

NM_001111.5

p.R360*

c.1078C>T

1 paper

NM_001111.5

p.R360Q

c.1079G>A

1 paper

NM_001111.5

p.E361K

c.1081G>A

9 papers

NM_001111.5

p.K359_R360delFs

c.1076_1080del5

1 paper

NM_001111.5

p.H354L

c.1061A>T