Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD52

ANKRD52

56 papers

Pfam Domains

Ank_2aa 12–104UCSCAnkyrin repeats (3 copies)
Ank_2aa 111–203UCSCAnkyrin repeats (3 copies)
Ank_2aa 210–303UCSCAnkyrin repeats (3 copies)
Ank_2aa 280–369UCSCAnkyrin repeats (3 copies)
Ank_2aa 376–486UCSCAnkyrin repeats (3 copies)
Ank_2aa 451–506UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 52

HGNC Alias Symbols

FLJ34236; PP6-ARS-C

Papers
RefSeq ID
Protein change
DNA change
1–12 of 67 variants
2 papers
NM_173595.4
p.G550S
c.1648G>A
2 papers
NM_173595.4
p.A956T
c.2866G>A
2 papers
NM_173595.4
p.A989G
c.2966C>G
1 paper
NM_173595.4
p.V13F
c.37G>T
1 paper
NM_173595.4
p.K31K
c.93G>A
1 paper
NM_173595.4
p.Q39L
c.116A>T
1 paper
NM_173595.4
p.R42*
c.124C>T
1 paper
NM_173595.4
p.A65S
c.193G>T
1 paper
NM_173595.4
p.R103Q
c.308G>A
1 paper
NM_173595.4
p.A116T
c.346G>A
1 paper
NM_173595.4
p.P128H
c.383C>A
1 paper
NM_173595.4
p.A143A
c.429T>C
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