Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD53
Variant:p.K200*

ANKRD53

47 papers

Pfam Domains

Ankaa 139–172UCSCAnkyrin repeat
Ank_2aa 163–241UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 53

HGNC Alias Symbols

FLJ12056; FLJ36160

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001115116.2
p.K200*
c.598A>T
Surrounding Variants
1 paper
NM_001115116.2
p.G201D
c.602G>A
1 paper
NM_001115116.2
p.N186S
c.557A>G
1 paper
NM_001115116.2
p.V181D
c.542T>A
1 paper
NM_001115116.2
p.S174N
c.521G>A
1 paper
NM_001115116.2
p.N172I
c.515A>T
1 paper
NM_001115116.2
p.K164E
c.490A>G
1 paper
NM_001115116.2
p.L153P
c.458T>C
1 paper
NM_001115116.2
p.L153I
c.457C>A
1 paper
NM_001115116.2
p.K152N
c.456G>C
1 paper
NM_001115116.2
p.K152N
c.456G>T
1 paper
NM_001115116.2
p.G151delFs
c.453delC
1 paper
NM_001115116.2
p.G151fs
c.451_452fs
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