Varaico: Literature-Extracted Genetic Variants

Gene:ADARB1
Variant:p.L388P

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.L388P
c.1163T>C
Surrounding Variants
1 paper
NM_001112.4
p.L388H
c.1163T>A
1 paper
NM_001112.4
p.L388R
c.1163T>G
1 paper
NM_001112.4
p.L388I
c.1162C>A
1 paper
NM_001112.4
p.L388V
c.1162C>G
1 paper
NM_001112.4
p.L388F
c.1162C>T
1 paper
NM_001112.4
p.A389T
c.1165G>A
1 paper
NM_001112.4
p.A389P
c.1165G>C
1 paper
NM_001112.4
p.A389S
c.1165G>T
1 paper
NM_001112.4
p.A389E
c.1166C>A
1 paper
NM_001112.4
p.A389G
c.1166C>G
2 papers
NM_001112.4
p.A389V
c.1166C>T
1 paper
NM_001112.4
p.G387D
c.1160G>A
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