Varaico: Literature-Extracted Genetic Variants

Gene:ANKLE1
Variant:p.T562T

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.T562T
c.1686G>A
Surrounding Variants
1 paper
NM_152363.6
p.N565D
c.1693A>G
1 paper
NM_152363.6
p.H570_Y572del0
c.1708_1716del9
1 paper
NM_152363.6
p.C571F
c.1712G>T
2 papers
NM_152363.6
p.A576_G577delFs
c.1727_1730del4
1 paper
NM_152363.6
p.A576_G577del2
c.1726_1730del6
2 papers
NM_152363.6
p.A576insFs
c.1726_1727insGT
1 paper
NM_152363.6
p.A576insFs
c.1726_1727ins4
1 paper
NM_152363.6
p.R584delFs
c.1751delG
1 paper
NM_152363.6
p.R584Q
c.1751G>A
1 paper
NM_152363.6
p.R584L
c.1751G>T
1 paper
NM_152363.6
p.R585L
c.1754G>T
2 papers
NM_152363.6
p.G587_L591del5
c.1759_1772del15
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