Varaico: Literature-Extracted Genetic Variants

Gene:ADARB2
Variant:p.K522delFs

ADARB2

146 papers

RefSeq Summary

This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008].

Pfam Domains

dsrmaa 126–188UCSCDouble-stranded RNA binding motif
dsrmaa 282–339UCSCDouble-stranded RNA binding motif
A_deaminaa 408–729UCSCAdenosine-deaminase (editase) domain

Gene Aliases

HGNC Name

adenosine deaminase RNA specific B2 (inactive)

HGNC Alias Symbols

RED2; hRED2; ADAR3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018702.4
p.K522delFs
c.1564delT
Surrounding Variants
1 paper
NM_018702.4
p.I523I
c.1569C>T
1 paper
NM_018702.4
p.S525S
c.1575C>T
2 papers
NM_018702.4
p.E527Q
c.1579G>C
2 papers
NM_018702.4
p.E527K
c.1579G>A
1 paper
NM_018702.4
p.G517R
c.1549G>C
1 paper
NM_018702.4
p.G517R
c.1549G>A
1 paper
NM_018702.4
p.R516L
c.1547G>T
2 papers
NM_018702.4
p.R516C
c.1546C>T
1 paper
NM_018702.4
p.V532M
c.1594G>A
2 papers
NM_018702.4
p.V512I
c.1534G>A
1 paper
NM_018702.4
p.R533H
c.1598G>A
1 paper
NM_018702.4
p.S507C
c.1519A>T
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