Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD44
Variant:p.P945S

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.P945S
c.2833C>T
Surrounding Variants
1 paper
NM_001195144.2
p.A941S
c.2821G>T
1 paper
NM_001195144.2
p.Q990*
c.2968C>T
1 paper
NM_001195144.2
p.D889D
c.2667T>C
1 paper
NM_001195144.2
p.S871S
c.2613A>G
1 paper
NM_001195144.2
p.I812Splc
c.2435+7A>T
1 paper
NM_001195144.2
p.N784S
c.2351A>G
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