Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD44

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
1–12 of 66 variants
5 papers
NM_001195144.2
p.I94M
c.282T>G
2 papers
NM_001195144.2
p.G405E
c.1214G>A
2 papers
NM_001195144.2
p.K530Q
c.1588A>C
2 papers
NM_001195144.2
p.V696I
c.2086G>A
1 paper
NM_001195144.2
p.V3M
c.7G>A
1 paper
NM_001195144.2
p.D8Y
c.22G>T
1 paper
NM_001195144.2
p.E23insFs
c.67_68insAG
1 paper
NM_001195144.2
p.E23insFs
c.68_69insCT
1 paper
NM_001195144.2
p.E23insFs
c.68_69ins4
1 paper
NM_001195144.2
p.I24insFs
c.70_71insTT
1 paper
NM_001195144.2
p.I24insFs
c.71_72insGG
1 paper
NM_001195144.2
p.I24T
c.71T>C
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