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.E45*

c.133G>T

Surrounding Variants

1 paper

NM_001111.5

p.Q43delFs

c.128_129delTT

1 paper

NM_001111.5

p.F46I

c.136T>A

1 paper

NM_001111.5

p.Q43L

c.128A>T

1 paper

NM_001111.5

p.L47I

c.139C>A

1 paper

NM_001111.5

p.S38_K42delFs

c.112_124del13

1 paper

NM_001111.5

p.K42R

c.125A>G

1 paper

NM_001111.5

p.K48*

c.142A>T

1 paper

NM_001111.5

p.L40L

c.118C>T

1 paper

NM_001111.5

p.S38R

c.114T>A

1 paper

NM_001111.5

p.Q50_L51delFs

c.150_151delGC

1 paper

NM_001111.5

p.P52S

c.154C>T

1 paper

NM_001111.5

p.P52T

c.154C>A