Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD53
Variant:p.F250L

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
2 papers
NM_001115116.2
p.F250L
c.748T>C
Surrounding Variants
2 papers
NM_001115116.2
p.F250L
c.750C>A
2 papers
NM_001115116.2
p.F250L
c.750C>G
1 paper
NM_001115116.2
p.K252T
c.755A>C
1 paper
NM_001115116.2
p.I253V
c.757A>G
1 paper
NM_001115116.2
p.G244A
c.731G>C
1 paper
NM_001115116.2
p.M243K
c.728T>A
1 paper
NM_001115116.2
p.A242T
c.724G>A
1 paper
NM_001115116.2
p.A258T
c.772G>A
2 papers
NM_001115116.2
p.R261W
c.781C>T
1 paper
NM_001115116.2
p.A235T
c.703G>A
1 paper
NM_001115116.2
p.V231L
c.691G>C
1 paper
NM_001115116.2
p.V231L
c.691G>T
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