Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD52
Variant:p.I954M

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.I954M
c.2862C>G
Surrounding Variants
1 paper
NM_173595.4
p.N955S
c.2864A>G
2 papers
NM_173595.4
p.A956T
c.2866G>A
1 paper
NM_173595.4
p.A960V
c.2879C>T
1 paper
NM_173595.4
p.P964A
c.2890C>G
1 paper
NM_173595.4
p.Q978L
c.2933A>T
1 paper
NM_173595.4
p.H983R
c.2948A>G
2 papers
NM_173595.4
p.A989G
c.2966C>G
1 paper
NM_173595.4
p.T919P
c.2755A>C
1 paper
NM_173595.4
p.Q879H
c.2637G>T
1 paper
NM_173595.4
p.Q879H
c.2637G>C
1 paper
NM_173595.4
p.M1018I
c.3054G>T
1 paper
NM_173595.4
p.M1018I
c.3054G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."