Varaico: Literature-Extracted Genetic Variants

Gene:ADARB1
Variant:p.F342L

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.F342L
c.1026C>A
Surrounding Variants
1 paper
NM_001112.4
p.F342L
c.1026C>G
1 paper
NM_001112.4
p.F342Y
c.1025T>A
1 paper
NM_001112.4
p.S343T
c.1027T>A
1 paper
NM_001112.4
p.F342S
c.1025T>C
1 paper
NM_001112.4
p.S343P
c.1027T>C
1 paper
NM_001112.4
p.F342C
c.1025T>G
1 paper
NM_001112.4
p.S343A
c.1027T>G
1 paper
NM_001112.4
p.S343Y
c.1028C>A
1 paper
NM_001112.4
p.S343C
c.1028C>G
1 paper
NM_001112.4
p.S343F
c.1028C>T
1 paper
NM_001112.4
p.F342I
c.1024T>A
1 paper
NM_001112.4
p.F342L
c.1024T>C
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