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

6 papers

NM_001111.5

p.G1047R

c.3139G>C

Surrounding Variants

2 papers

NM_001111.5

p.G1047fs

c.3139_3140fs

2 papers

NM_001111.5

p.G1047A

c.3140G>C

2 papers

NM_001111.5

p.G1047D

c.3140G>A

2 papers

NM_001111.5

p.G1047delFs

c.3140delC

1 paper

NM_001111.5

p.L1048P

c.3143T>C

1 paper

NM_001111.5

p.V1045L

c.3133G>T

1 paper

NM_001111.5

p.V1045L

c.3133G>C

2 papers

NM_001111.5

p.Q1049*

c.3145C>T

1 paper

NM_001111.5

p.N1044S

c.3131A>G

2 papers

NM_001111.5

p.A1051V

c.3152C>T

1 paper

NM_001111.5

p.R1042delFs

c.3125delC

5 papers

NM_001111.5

p.R1042H

c.3125G>A