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

2 papers

NM_001111.5

p.W353R

c.1057T>A

Surrounding Variants

2 papers

NM_001111.5

p.W353R

c.1057T>C

1 paper

NM_001111.5

p.W353fs

c.1057_1058fs

1 paper

NM_001111.5

p.W353*

c.1059G>A

1 paper

NM_001111.5

p.W353delFs

c.1057_1058delCA

1 paper

NM_001111.5

p.H354L

c.1061A>T

2 papers

NM_001111.5

p.T356insFs

c.1068dupA

1 paper

NM_001111.5

p.D357fs

c.1069_1070fs

3 papers

NM_001111.5

p.K358*

c.1072A>T

1 paper

NM_001111.5

p.K358E

c.1072A>G

1 paper

NM_001111.5

p.T348A

c.1042A>G

1 paper

NM_001111.5

p.T348P

c.1042A>C

3 papers

NM_001111.5

p.L355_T356delFs

c.1065_1068del4