Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD52
Variant:p.I646S

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
Selected Variant
1 paper
NM_173595.4
p.I646S
c.1937T>G
Surrounding Variants
1 paper
NM_173595.4
p.E632*
c.1894G>T
1 paper
NM_173595.4
p.R628R
c.1884C>T
1 paper
NM_173595.4
p.T626M
c.1877C>T
1 paper
NM_173595.4
p.V613I
c.1837G>A
1 paper
NM_173595.4
p.T603T
c.1809G>A
1 paper
NM_173595.4
p.L601F
c.1803G>T
1 paper
NM_173595.4
p.L601F
c.1803G>C
1 paper
NM_173595.4
p.S662C
c.1985C>G
1 paper
NM_173595.4
p.S582N
c.1745G>A
1 paper
NM_173595.4
p.T723A
c.2167A>G
2 papers
NM_173595.4
p.G550S
c.1648G>A
1 paper
NM_173595.4
p.R546W
c.1636C>T
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