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.K129N

c.387G>C

Surrounding Variants

1 paper

NM_001112.4

p.K129K

c.387G>A

1 paper

NM_001112.4

p.K129N

c.387G>T

4 papers

NM_001112.4

p.K127E

c.379A>G

1 paper

NM_001112.4

p.L132P

c.395T>C

1 paper

NM_001112.4

p.T126K

c.377C>A

1 paper

NM_001112.4

p.T126R

c.377C>G

1 paper

NM_001112.4

p.T126I

c.377C>T

1 paper

NM_001112.4

p.H133Fs

c.398delinsATFs

1 paper

NM_001112.4

p.T126S

c.376A>T

1 paper

NM_001112.4

p.E121Q

c.361G>C

1 paper

NM_001112.4

p.F120Y

c.359T>A

1 paper

NM_001112.4

p.F120S

c.359T>C