Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD53
Variant:p.V231L

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
1 paper
NM_001115116.2
p.V231L
c.691G>C
Surrounding Variants
1 paper
NM_001115116.2
p.V231L
c.691G>T
1 paper
NM_001115116.2
p.A235T
c.703G>A
1 paper
NM_001115116.2
p.V227L
c.679G>C
1 paper
NM_001115116.2
p.V227L
c.679G>T
1 paper
NM_001115116.2
p.C226S
c.676T>A
1 paper
NM_001115116.2
p.G222S
c.664G>A
1 paper
NM_001115116.2
p.A242T
c.724G>A
1 paper
NM_001115116.2
p.A219V
c.656C>T
1 paper
NM_001115116.2
p.M243K
c.728T>A
1 paper
NM_001115116.2
p.G244A
c.731G>C
1 paper
NM_001115116.2
p.L217V
c.649C>G
1 paper
NM_001115116.2
p.T213A
c.637A>G
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