Varaico: Literature-Extracted Genetic Variants

Gene:ANKLE1
Variant:p.Q522Q

ANKLE1

62 papers

Pfam Domains

Ank_2aa 11–106UCSCAnkyrin repeats (3 copies)
LEM-3_GIY-YIGaa 450–613UCSCLEM-3-like GIY-YIG domain

Gene Aliases

HGNC Name

ankyrin repeat and LEM domain containing 1

HGNC Previous Symbol

ANKRD41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152363.6
p.Q522Q
c.1566G>A
Surrounding Variants
1 paper
NM_152363.6
p.L536L
c.1606C>T
1 paper
NM_152363.6
p.V542M
c.1624G>A
1 paper
NM_152363.6
p.R550W
c.1648C>T
2 papers
NM_152363.6
p.E551A
c.1652A>C
1 paper
NM_152363.6
p.C553G
c.1657T>G
1 paper
NM_152363.6
p.R494Q
c.1481G>A
1 paper
NM_152363.6
p.G488A
c.1463G>C
1 paper
NM_152363.6
p.Y486F
c.1457A>T
1 paper
NM_152363.6
p.D463G
c.1388A>G
1 paper
NM_152363.6
p.T562T
c.1686G>A
1 paper
NM_152363.6
p.N565D
c.1693A>G
1 paper
NM_152363.6
p.H570_Y572del0
c.1708_1716del9
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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."