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

23 papers

NM_001111.5

p.K384R

c.1151A>G

Surrounding Variants

1 paper

NM_001111.5

p.P381_K384delFs

c.1141_1151del11

1 paper

NM_001111.5

p.R385G

c.1153A>G

1 paper

NM_001111.5

p.R385S

c.1155A>C

3 papers

NM_001111.5

p.N386D

c.1156A>G

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.E382K

c.1144G>A

1 paper

NM_001025107.3

p.N91delFs

c.271_272delTT

1 paper

NM_001111.5

p.K384_N386del3

c.1150_1157del9

1 paper

NM_001111.5

p.I380I

c.1140C>T

1 paper

NM_001111.5

p.F389fs

c.1165_1166fs

1 paper

NM_001111.5

p.L390P

c.1169T>C