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.R474H

c.1421G>A

Surrounding Variants

1 paper

NM_001112.4

p.R474C

c.1420C>T

1 paper

NM_001112.4

p.N473S

c.1418A>G

1 paper

NM_001112.4

p.A476G

c.1427C>G

1 paper

NM_001112.4

p.S486A

c.1456T>G

1 paper

NM_001112.4

p.E488K

c.1462G>A

34 papers

NM_001112.4

p.E488Q

c.1462G>C

2 papers

NM_001112.4

p.E488*

c.1462G>T

1 paper

NM_001112.4

p.V493E

c.1478T>A

1 paper

NM_001112.4

p.S495C

c.1484C>G

1 paper

NM_001112.4

p.A497V

c.1490C>T

1 paper

NM_001112.4

p.T501A

c.1501A>G

2 papers

NM_001112.4

p.D503A

c.1508A>C