Varaico: Literature-Extracted Genetic Variants

Gene:ANKLE1
Variant:p.P190_P191del1

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.P190_P191del1
c.570_572delCCC
Surrounding Variants
1 paper
NM_152363.6
p.D187E
c.561C>A
1 paper
NM_152363.6
p.S192_L193delFs
c.576_577delCC
6 papers
NM_152363.6
p.L184W
c.551T>G
2 papers
NM_152363.6
p.P196_L197delFs
c.587_591del5
1 paper
NM_152363.6
p.L197del1
c.589_591delCTT
1 paper
NM_152363.6
p.C175R
c.523T>C
1 paper
NM_152363.6
p.D214_Y215delFs
c.641_645del5
1 paper
NM_152363.6
p.Y215delFs
c.643_644delTA
1 paper
NM_152363.6
p.T161N
c.482C>A
1 paper
NM_152363.6
p.V227G
c.680T>G
2 papers
NM_152363.6
p.E231K
c.691G>A
1 paper
NM_152363.6
p.E268Q
c.802G>C
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