Varaico: Literature-Extracted Genetic Variants

Gene:ADARB1
Variant:p.E121Q

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.E121Q
c.361G>C
Surrounding Variants
1 paper
NM_001112.4
p.F120Y
c.359T>A
1 paper
NM_001112.4
p.F120S
c.359T>C
1 paper
NM_001112.4
p.F120C
c.359T>G
1 paper
NM_001112.4
p.F120I
c.358T>A
1 paper
NM_001112.4
p.F120L
c.358T>C
1 paper
NM_001112.4
p.F120V
c.358T>G
1 paper
NM_001112.4
p.V119F
c.355G>T
1 paper
NM_001112.4
p.Q118Q
c.354G>A
1 paper
NM_001112.4
p.Q118H
c.354G>C
1 paper
NM_001112.4
p.Q118H
c.354G>T
1 paper
NM_001112.4
p.Q118P
c.353A>C
1 paper
NM_001112.4
p.Q118R
c.353A>G
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