Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD53

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
1–12 of 135 variants
5 papers
NM_001115116.2
p.L523P
c.1568T>C
4 papers
NM_001115116.2
p.K200*
c.598A>T
4 papers
NM_001115116.2
p.H431L
c.1292A>T
3 papers
NM_001115116.2
p.R334_L338del0
c.1001_1012del12
2 papers
NM_001115116.2
p.A105G
c.314C>G
2 papers
NM_001115116.2
p.Y110D
c.328T>G
2 papers
NM_001115116.2
p.F250L
c.748T>C
2 papers
NM_001115116.2
p.F250L
c.750C>A
2 papers
NM_001115116.2
p.F250L
c.750C>G
2 papers
NM_001115116.2
p.R261W
c.781C>T
1 paper
NM_001115116.2
p.M1insFs
c.1_2insG
1 paper
NM_001115116.2
p.M1_A2insG
c.1_5ins3
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