Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD44
Variant:p.L722L

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.L722L
c.2164C>T
Surrounding Variants
1 paper
NM_001195144.2
p.G714R
c.2140G>A
1 paper
NM_001195144.2
p.G736A
c.2207G>C
1 paper
NM_001195144.2
p.Y742C
c.2225A>G
1 paper
NM_001195144.2
p.E762K
c.2284G>A
1 paper
NM_001195144.2
p.G772C
c.2314G>T
1 paper
NM_001195144.2
p.H708L
c.2123A>T
2 papers
NM_001195144.2
p.V696I
c.2086G>A
1 paper
NM_001195144.2
p.P660L
c.1979C>T
1 paper
NM_001195144.2
p.N784S
c.2351A>G
1 paper
NM_001195144.2
p.I812Splc
c.2435+7A>T
1 paper
NM_001195144.2
p.S871S
c.2613A>G
1 paper
NM_001195144.2
p.D889D
c.2667T>C
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