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

13 papers

NM_001111.5

p.Q513*

c.1537C>T

Surrounding Variants

1 paper

NM_001111.5

p.Q513R

c.1538A>G

1 paper

NM_001111.5

p.A512P

c.1534G>C

1 paper

NM_001111.5

p.F514F

c.1542C>T

1 paper

NM_001111.5

p.A515S

c.1543G>T

1 paper

NM_001111.5

p.S516I

c.1547G>T

1 paper

NM_001111.5

p.L509L

c.1527A>G

1 paper

NM_001111.5

p.S516_Q517delFs

c.1548_1549delGA

3 papers

NM_001111.5

p.G507delFs

c.1521delC

2 papers

NM_001111.5

p.T518fs

c.1552_1553fs

1 paper

NM_001111.5

p.T518S

c.1552A>T

6 papers

NM_001111.5

p.G507fs

c.1519_1520fs

1 paper

NM_001111.5

p.T518S

c.1553C>G