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.S249*

c.746C>G

Surrounding Variants

2 papers

NM_001111.5

p.A250T

c.748G>A

2 papers

NM_001111.5

p.V248V

c.744C>A

1 paper

NM_001111.5

p.A250V

c.749C>T

1 paper

NM_001111.5

p.A247A

c.741A>G

1 paper

NM_001111.5

p.A247V

c.740C>T

1 paper

NM_001111.5

p.A247E

c.740C>A

1 paper

NM_001111.5

p.P244_I246del0

c.732_737del6

1 paper

NM_001111.5

p.I246V

c.736A>G

1 paper

NM_001111.5

p.F245I

c.733T>A

1 paper

NM_001111.5

p.N254D

c.760A>G

1 paper

NM_001111.5

p.Q255*

c.763C>T

1 paper

NM_001111.5

p.E243Q

c.727G>C