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

3 papers

NM_001111.5

p.P377A

c.1129C>G

Surrounding Variants

1 paper

NM_001111.5

p.A376D

c.1127C>A

1 paper

NM_001111.5

p.A376T

c.1126G>A

1 paper

NM_001111.5

p.T375T

c.1125C>T

1 paper

NM_001111.5

p.I380I

c.1140C>T

1 paper

NM_001111.5

p.E382K

c.1144G>A

1 paper

NM_001111.5

p.E382G

c.1145A>G

1 paper

NM_001111.5

p.A378_E382delFs

c.1134_1144del11

1 paper

NM_001111.5

p.S371I

c.1112G>T

1 paper

NM_001111.5

p.S371N

c.1112G>A

1 paper

NM_001111.5

p.K359_N370del12

c.1075_1109del36

1 paper

NM_001111.5

p.N370S

c.1109A>G

3 papers

NM_001111.5

p.T369fs

c.1105_1106fs