Varaico: Literature-Extracted Genetic Variants

Gene:ADCK2
Variant:p.M323L

ADCK2

57 papers

Pfam Domains

ABC1aa 286–527UCSCABC1 atypical kinase-like domain
UbiB_Naa 554–609UCSCUbiB N-terminal domain

Gene Aliases

HGNC Name

aarF domain containing kinase 2

HGNC Alias Symbol

MGC20727

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052853.4
p.M323L
c.967A>C
Surrounding Variants
1 paper
NM_052853.4
p.M323V
c.967A>G
1 paper
NM_052853.4
p.M323L
c.967A>T
1 paper
NM_052853.4
p.L318H
c.953T>A
1 paper
NM_052853.4
p.R333*
c.997C>T
1 paper
NM_052853.4
p.V334V
c.1002C>G
1 paper
NM_052853.4
p.L335L
c.1003C>T
1 paper
NM_052853.4
p.K311_V312Splc
c.933+1G>C
4 papers
NM_052853.4
p.S307P
c.919T>C
1 paper
NM_052853.4
p.R292W
c.874C>T
1 paper
NM_052853.4
p.G285E
c.854G>A
1 paper
NM_052853.4
p.L250_R251delFs
c.750_751delGA
1 paper
NM_052853.4
p.L250fs
c.748_749fs
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