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.V77A

c.230T>C

Surrounding Variants

1 paper

NM_001111.5

p.L78L

c.232C>T

1 paper

NM_001111.5

p.P76_V77del2

c.226_230del6

2 papers

NM_001111.5

p.P76L

c.227C>T

1 paper

NM_001111.5

p.P76S

c.226C>T

1 paper

NM_001111.5

p.R74_F75delFs

c.222_223delAC

1 paper

NM_001111.5

p.L79L

c.237T>C

1 paper

NM_001111.5

p.A80T

c.238G>A

1 paper

NM_001111.5

p.R74R

c.222G>A

1 paper

NM_001111.5

p.A80insFs

c.240dupC

1 paper

NM_001111.5

p.S81C

c.242C>G

1 paper

NM_001111.5

p.P73S

c.217C>T

1 paper

NM_001111.5

p.R72_P73delins

c.215_218delinsTGGC