Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD53
Variant:p.R334_L338del0

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
3 papers
NM_001115116.2
p.R334_L338del0
c.1001_1012del12
Surrounding Variants
1 paper
NM_001115116.2
p.K331T
c.992A>C
1 paper
NM_001115116.2
p.T336A
c.1006A>G
1 paper
NM_001115116.2
p.L326L
c.978G>A
1 paper
NM_001115116.2
p.S339P
c.1015T>C
1 paper
NM_001115116.2
p.K340N
c.1020G>C
1 paper
NM_001115116.2
p.K340N
c.1020G>T
1 paper
NM_001115116.2
p.R349L
c.1046G>T
1 paper
NM_001115116.2
p.R313I
c.938G>T
1 paper
NM_001115116.2
p.P355T
c.1063C>A
1 paper
NM_001115116.2
p.A310V
c.929C>T
1 paper
NM_001115116.2
p.Q362H
c.1086A>T
1 paper
NM_001115116.2
p.P365S
c.1093C>T
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