Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD53
Variant:p.Q129Q

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.Q129Q
c.387G>A
Surrounding Variants
1 paper
NM_001115116.2
p.S130R
c.388A>C
1 paper
NM_001115116.2
p.S130I
c.389G>T
1 paper
NM_001115116.2
p.S130R
c.390C>A
1 paper
NM_001115116.2
p.S130R
c.390C>G
1 paper
NM_001115116.2
p.L131F
c.391C>T
1 paper
NM_001115116.2
p.L127V
c.379C>G
1 paper
NM_001115116.2
p.E133K
c.397G>A
1 paper
NM_001115116.2
p.R124R
c.372A>G
1 paper
NM_001115116.2
p.D138Y
c.412G>T
1 paper
NM_001115116.2
p.V120L
c.358G>C
1 paper
NM_001115116.2
p.V120L
c.358G>T
1 paper
NM_001115116.2
p.N119fs
c.355_356fs
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