Varaico: Literature-Extracted Genetic Variants

Gene:ANKLE1
Variant:p.A125V

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
2 papers
NM_152363.6
p.A125V
c.374C>T
Surrounding Variants
1 paper
NM_152363.6
p.R140P
c.419G>C
1 paper
NM_152363.6
p.L104_Q107del0
c.310_321del12
2 papers
NM_152363.6
p.L94Q
c.281T>A
1 paper
NM_152363.6
p.E93_L96del0
c.277_288del12
1 paper
NM_152363.6
p.A85T
c.253G>A
1 paper
NM_152363.6
p.V74I
c.220G>A
1 paper
NM_152363.6
p.T161N
c.482C>A
1 paper
NM_152363.6
p.C175R
c.523T>C
6 papers
NM_152363.6
p.L184W
c.551T>G
1 paper
NM_152363.6
p.D187E
c.561C>A
1 paper
NM_152363.6
p.P190_P191del1
c.570_572delCCC
1 paper
NM_152363.6
p.S192_L193delFs
c.576_577delCC
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