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.E381Q

c.1141G>C

Surrounding Variants

1 paper

NM_001112.4

p.E381K

c.1141G>A

1 paper

NM_001112.4

p.E381A

c.1142A>C

1 paper

NM_001112.4

p.E381G

c.1142A>G

1 paper

NM_001112.4

p.E381V

c.1142A>T

1 paper

NM_001112.4

p.E381D

c.1143A>C

1 paper

NM_001112.4

p.E381D

c.1143A>T

1 paper

NM_001112.4

p.G380D

c.1139G>A

1 paper

NM_001112.4

p.G380A

c.1139G>C

1 paper

NM_001112.4

p.G380V

c.1139G>T

1 paper

NM_001112.4

p.G380S

c.1138G>A

1 paper

NM_001112.4

p.G380R

c.1138G>C

1 paper

NM_001112.4

p.G380C

c.1138G>T