Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD53
Variant:p.M1insFs

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.M1insFs
c.1_2insG
Surrounding Variants
1 paper
NM_001115116.2
p.M1_A2insG
c.1_5ins3
1 paper
NM_001115116.2
p.M1L
c.1A>C
1 paper
NM_001115116.2
p.M1V
c.1A>G
1 paper
NM_001115116.2
p.M1L
c.1A>T
1 paper
NM_001115116.2
p.M1T
c.2T>C
1 paper
NM_001115116.2
p.A8delFs
c.22_23delGC
1 paper
NM_001115116.2
p.A8fs
c.22_23fs
1 paper
NM_001115116.2
p.E22_G23del2
c.64_68del6
1 paper
NM_001115116.2
p.G25R
c.73G>C
1 paper
NM_001115116.2
p.A26S
c.76G>T
1 paper
NM_001115116.2
p.P30S
c.88C>T
1 paper
NM_001115116.2
p.S33C
c.97A>T
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