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.G903E

c.2708G>A

Surrounding Variants

8 papers

NM_001111.5

p.V906F

c.2716G>T

1 paper

NM_001111.5

p.V906V

c.2718C>T

1 paper

NM_001111.5

p.N907S

c.2720A>G

1 paper

NM_001111.5

p.L899F

c.2695C>T

3 papers

NM_001111.5

p.D908Y

c.2722G>T

1 paper

NM_001111.5

p.S898F

c.2693C>T

2 papers

NM_001111.5

p.S898C

c.2693C>G

1 paper

NM_001111.5

p.S898A

c.2692T>G

1 paper

NM_001111.5

p.D897_S898insCCA

c.2689_2693ins9

1 paper

NM_001111.5

p.C909*

c.2727C>A

1 paper

NM_001111.5

p.H910Y

c.2728C>T

1 paper

NM_001111.5

p.G896A

c.2687G>C