Varaico: Literature-Extracted Genetic Variants

Gene:ADAD2
Variant:p.A530V

ADAD2

71 papers

Pfam Domains

dsrmaa 116–179UCSCDouble-stranded RNA binding motif
A_deaminaa 261–576UCSCAdenosine-deaminase (editase) domain

Gene Aliases

HGNC Name

adenosine deaminase domain containing 2

HGNC Alias Symbols

TENRL; FLJ00337

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001145400.2
p.A530V
c.1589C>T
Surrounding Variants
1 paper
NM_001145400.2
p.A526T
c.1576G>A
1 paper
NM_001145400.2
p.K536E
c.1606A>G
1 paper
NM_001145400.2
p.C519W
c.1557C>G
1 paper
NM_001145400.2
p.R517H
c.1550G>A
1 paper
NM_001145400.2
p.R517C
c.1549C>T
1 paper
NM_001145400.2
p.S516_R517insA
c.1546_1550ins3
1 paper
NM_001145400.2
p.K549_A550Splc
c.1647+3T>C
1 paper
NM_001145400.2
p.R558R
c.1672A>C
1 paper
NM_139174.4
p.Q648*
c.1942C>T
1 paper
NM_001145400.2
p.Q567*
c.1699C>T
1 paper
NM_001145400.2
p.P576R
c.1727C>G
1 paper
NM_001145400.2
p.A508A
c.1524C>T
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