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

1–12 of 474 variants

34 papers

NM_001112.4

p.E488Q

c.1462G>C

19 papers

NM_001112.4

p.E396A

c.1187A>C

4 papers

NM_001112.4

p.K127E

c.379A>G

3 papers

NM_001112.4

p.P345L

c.1034C>T

3 papers

NM_001112.4

p.K367N

c.1101G>C

3 papers

NM_001112.4

p.K367N

c.1101G>T

3 papers

NM_001112.4

p.V368L

c.1102G>C

3 papers

NM_001112.4

p.V368L

c.1102G>T

2 papers

NM_001112.4

p.K350I

c.1049A>T

2 papers

NM_001112.4

p.V351G

c.1052T>G

2 papers

NM_001112.4

p.V356I

c.1066G>A

2 papers

NM_001112.4

p.K367E

c.1099A>G