Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD44
Variant:p.I24T

ANKRD44

53 papers

Pfam Domains

Ank_2aa 12–104UCSCAnkyrin repeats (3 copies)
Ank_2aa 78–170UCSCAnkyrin repeats (3 copies)
Ank_2aa 102–170UCSCAnkyrin repeats (3 copies)
Ank_2aa 170–236UCSCAnkyrin repeats (3 copies)
Ank_2aa 210–303UCSCAnkyrin repeats (3 copies)
Ank_2aa 228–302UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 44

HGNC Alias Symbol

PP6-ARS-B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001195144.2
p.I24T
c.71T>C
Surrounding Variants
1 paper
NM_001195144.2
p.I24insFs
c.71_72insGG
1 paper
NM_001195144.2
p.I24insFs
c.70_71insTT
1 paper
NM_001195144.2
p.E23insFs
c.68_69ins4
1 paper
NM_001195144.2
p.E23insFs
c.68_69insCT
1 paper
NM_001195144.2
p.E23insFs
c.67_68insAG
1 paper
NM_001195144.2
p.M26insFs
c.76_77insTT
1 paper
NM_001195144.2
p.L27insFs
c.80_81insTT
1 paper
NM_001195144.2
p.L27_I28insFs
c.81_82insGG
1 paper
NM_001195144.2
p.L27_I28insFs
c.81_82insCG
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