Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD52
Variant:p.R368C

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.R368C
c.1102C>T
Surrounding Variants
1 paper
NM_173595.4
p.S399N
c.1196G>A
1 paper
NM_173595.4
p.H351H
c.1053C>T
1 paper
NM_173595.4
p.C438Y
c.1313G>A
1 paper
NM_173595.4
p.S308fs
c.922_923fs
1 paper
NM_173595.4
p.G306delFs
c.918delC
1 paper
NM_173595.4
p.N466N
c.1398C>T
1 paper
NM_173595.4
p.C490S
c.1468T>A
1 paper
NM_173595.4
p.C490S
c.1469G>C
1 paper
NM_173595.4
p.S491C
c.1472C>G
1 paper
NM_173595.4
p.R504Splc
c.1512-18T>C
1 paper
NM_173595.4
p.Y301_Q302delins
c.903_904delinsAA
1 paper
NM_173595.4
p.E506D
c.1518A>T
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