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.L1067F

c.3201G>C

Surrounding Variants

1 paper

NM_001111.5

p.L1067F

c.3201G>T

3 papers

NM_001111.5

p.L1067W

c.3200T>G

1 paper

NM_001111.5

p.L1067*

c.3200T>A

3 papers

NM_001111.5

p.G1068R

c.3202G>C

4 papers

NM_001111.5

p.G1068Splc

c.3202+1G>A

3 papers

NM_001111.5

p.G1068Splc

c.3202+5G>A

9 papers

NM_015840.4

p.S1038F

c.3113C>T

NM_001111.5

p.S1064F

c.3191C>T

3 papers

NM_001111.5

p.Y1061C

c.3182A>G

2 papers

NM_001111.5

p.Q1058*

c.3172C>T

8 papers

NM_001111.5

p.L1057fs

c.3169_3170fs

6 papers

NM_001111.5

p.L1057delFs

c.3169delG

1 paper

NM_001111.5

p.L1057L

c.3169C>T