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.G107A

c.320G>C

Surrounding Variants

1 paper

NM_001111.5

p.G107V

c.320G>T

1 paper

NM_001111.5

p.G107E

c.320G>A

1 paper

NM_001111.5

p.Q105_R106delFs

c.315_316delTC

1 paper

NM_001111.5

p.G107G

c.321G>A

1 paper

NM_001111.5

p.L104_G107Fs

c.312_321delinsATFs

1 paper

NM_001111.5

p.F108L

c.322T>C

1 paper

NM_001111.5

p.F108I

c.322T>A

1 paper

NM_001111.5

p.R106_G107delFs

c.317_321del5

1 paper

NM_001111.5

p.R106K

c.317G>A

1 paper

NM_001111.5

p.F108L

c.324C>A

1 paper

NM_001111.5

p.Q105H

c.315G>T

1 paper

NM_001111.5

p.Q105H

c.315G>C