Varaico: Literature-Extracted Genetic Variants

Gene:ANKLE1

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
1–12 of 82 variants
6 papers
NM_152363.6
p.L184W
c.551T>G
3 papers
NM_152363.6
p.L591fs
c.1771_1772fs
2 papers
NM_152363.6
p.L94Q
c.281T>A
2 papers
NM_152363.6
p.A125V
c.374C>T
2 papers
NM_152363.6
p.P196_L197delFs
c.587_591del5
2 papers
NM_152363.6
p.E231K
c.691G>A
2 papers
NM_152363.6
p.E551A
c.1652A>C
2 papers
NM_152363.6
p.A576_G577delFs
c.1727_1730del4
2 papers
NM_152363.6
p.A576insFs
c.1726_1727insGT
2 papers
NM_152363.6
p.G587_L591del5
c.1759_1772del15
2 papers
NM_152363.6
p.G587_L591del0
c.1760_1771del12
2 papers
NM_152363.6
p.L591fs
c.1771_1772fs
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."