Varaico: Literature-Extracted Genetic Variants

Gene:ANKLE1
Variant:p.L591delFs

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.L591delFs
c.1772delT
Surrounding Variants
2 papers
NM_152363.6
p.L591fs
c.1771_1772fs
2 papers
NM_152363.6
p.L591V
c.1771C>G
3 papers
NM_152363.6
p.L591fs
c.1771_1772fs
1 paper
NM_152363.6
p.R593insFs
c.1778_1779insGT
1 paper
NM_152363.6
p.V588_L591delFs
c.1764_1771del8
1 paper
NM_152363.6
p.H589_L591del0
c.1766_1771del6
1 paper
NM_152363.6
p.H589_L591del3
c.1765_1772del9
1 paper
NM_152363.6
p.G587R
c.1759G>A
2 papers
NM_152363.6
p.G587_L591del0
c.1760_1771del12
2 papers
NM_152363.6
p.G587_L591del5
c.1759_1772del15
1 paper
NM_152363.6
p.R585L
c.1754G>T
1 paper
NM_152363.6
p.F598insFs
c.1792_1793insGT
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