Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD53
Variant:p.S33C

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.S33C
c.97A>T
Surrounding Variants
1 paper
NM_001115116.2
p.S35F
c.104C>T
1 paper
NM_001115116.2
p.P30S
c.88C>T
1 paper
NM_001115116.2
p.A39T
c.115G>A
1 paper
NM_001115116.2
p.A26S
c.76G>T
1 paper
NM_001115116.2
p.N40I
c.119A>T
1 paper
NM_001115116.2
p.G25R
c.73G>C
1 paper
NM_001115116.2
p.E22_G23del2
c.64_68del6
1 paper
NM_001115116.2
p.T47T
c.141C>G
1 paper
NM_001115116.2
p.P56R
c.167C>G
1 paper
NM_001115116.2
p.S57C
c.169A>T
1 paper
NM_001115116.2
p.A8fs
c.22_23fs
1 paper
NM_001115116.2
p.A8delFs
c.22_23delGC
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