Varaico: Literature-Extracted Genetic Variants

ADARB1

175 papers

RefSeq Summary

This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre...

Pfam Domains

dsrmaa 128–190UCSCDouble-stranded RNA binding motif

dsrmaa 288–345UCSCDouble-stranded RNA binding motif

A_deaminaa 419–740UCSCAdenosine-deaminase (editase) domain

Gene Aliases

HGNC Name

adenosine deaminase RNA specific B1

HGNC Alias Symbols

ADAR2; DRADA2; ADAR2g; DRABA2; RED1; hRED1; ADAR2a-L1; ADAR2a-L2; ADAR2a-L3; ADAR2a; ADAR2b; ADAR2c; ADAR2d

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001112.4

p.A347A

c.1041T>G

Surrounding Variants

1 paper

NM_001112.4

p.A347D

c.1040C>A

1 paper

NM_001112.4

p.R348S

c.1042C>A

1 paper

NM_001112.4

p.A347G

c.1040C>G

1 paper

NM_001112.4

p.R348G

c.1042C>G

1 paper

NM_001112.4

p.A347V

c.1040C>T

1 paper

NM_001112.4

p.R348C

c.1042C>T

1 paper

NM_001112.4

p.A347T

c.1039G>A

1 paper

NM_001112.4

p.R348H

c.1043G>A

1 paper

NM_001112.4

p.A347P

c.1039G>C

1 paper

NM_001112.4

p.R348P

c.1043G>C

1 paper

NM_001112.4

p.A347S

c.1039G>T

1 paper

NM_001112.4

p.R348L

c.1043G>T