Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD44
Variant:p.I94M

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
5 papers
NM_001195144.2
p.I94M
c.282T>G
Surrounding Variants
1 paper
NM_001195144.2
p.K105N
c.315G>T
1 paper
NM_001195144.2
p.K105N
c.315G>C
1 paper
NM_001195144.2
p.G140W
c.418G>T
1 paper
NM_001195144.2
p.E154Q
c.460G>C
1 paper
NM_001195144.2
p.A164E
c.491C>A
1 paper
NM_001195144.2
p.A197delFs
c.590delG
1 paper
NM_001195144.2
p.A214S
c.640G>T
1 paper
NM_001195144.2
p.E231fs
c.691_692fs
1 paper
NM_001195144.2
p.E231delFs
c.692delT
1 paper
NM_001195144.2
p.A246T
c.736G>A
1 paper
NM_001195144.2
p.H284D
c.850C>G
1 paper
NM_001195144.2
p.N294N
c.882C>T
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