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.A319S

c.955G>T

Surrounding Variants

1 paper

NM_001111.5

p.A319D

c.956C>A

1 paper

NM_001111.5

p.L318*

c.953T>A

1 paper

NM_001111.5

p.S311_N317insFs

c.932_951dup20

1 paper

NM_001111.5

p.A315_L316del2

c.943_947del6

1 paper

NM_001111.5

p.D305_L316delFs

c.914_947del34

1 paper

NM_001111.5

p.N317_N321del5

c.949_962del15

1 paper

NM_001111.5

p.A315ins9

c.944_945ins27

1 paper

NM_001111.5

p.A315T

c.943G>A

1 paper

NM_001111.5

p.S314delFs

c.941_942delAG

1 paper

NM_001111.5

p.S313_S314del2

c.937_941del6

2 papers

NM_001111.5

p.S314fs

c.940_941fs

1 paper

NM_001111.5

p.L324F

c.970C>T