Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD65
Variant:p.P99L

ANKRD65

44 papers

Pfam Domains

Ank_2aa 45–137UCSCAnkyrin repeats (3 copies)
Ank_2aa 45–137UCSCAnkyrin repeats (3 copies)
Ank_2aa 132–205UCSCAnkyrin repeats (3 copies)
Ank_2aa 273–365UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 65

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001145210.3
p.P99L
c.296C>T
Surrounding Variants
1 paper
NM_001145210.3
p.A98_D104del7
c.292_311del21
1 paper
NM_001145210.3
p.R108L
c.323G>T
1 paper
NM_001145210.3
p.R108H
c.323G>A
1 paper
NM_001145210.3
p.E113D
c.339G>C
1 paper
NM_001145210.3
p.R129H
c.386G>A
1 paper
NM_001145210.3
p.A131S
c.391G>T
1 paper
NM_001145210.3
p.G138G
c.414G>A
1 paper
NM_001145210.3
p.L159L
c.477G>C
1 paper
NM_001145210.3
p.R70Splc
c.209+1G>T
1 paper
NM_001145210.3
p.V67M
c.199G>A
2 papers
NM_001145210.3
p.G200V
c.599G>T
1 paper
NM_001145210.3
p.L60Q
c.179T>A
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