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.T61T

c.183A>C

Surrounding Variants

1 paper

NM_001111.5

p.Q60_T61del1

c.180_182delGTC

1 paper

NM_001111.5

p.P62R

c.185C>G

1 paper

NM_001111.5

p.P62Q

c.185C>A

1 paper

NM_001111.5

p.Q60_T61del2

c.178_182del6

1 paper

NM_001111.5

p.V56_P62delFs

c.166_184del19

1 paper

NM_001111.5

p.P62P

c.186G>C

1 paper

NM_001111.5

p.K59delFs

c.177delC

1 paper

NM_001111.5

p.I57_K59del3

c.169_176del9

1 paper

NM_001111.5

p.K59K

c.177G>A

1 paper

NM_001111.5

p.K59_L64insFs

c.177_190dup14

2 papers

NM_001111.5

p.L64Q

c.191T>A

1 paper

NM_001111.5

p.K59E

c.175A>G