Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD44
Variant:p.W470R

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.W470R
c.1408T>C
Surrounding Variants
1 paper
NM_001195144.2
p.W470R
c.1408T>A
1 paper
NM_001195144.2
p.D482G
c.1445A>G
1 paper
NM_001195144.2
p.M483V
c.1447A>G
1 paper
NM_001195144.2
p.R439Splc
c.1316+4T>C
1 paper
NM_001195144.2
p.P525T
c.1573C>A
2 papers
NM_001195144.2
p.K530Q
c.1588A>C
1 paper
NM_001195144.2
p.A541T
c.1621G>A
2 papers
NM_001195144.2
p.G405E
c.1214G>A
1 paper
NM_001195144.2
p.K367M
c.1100A>T
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