Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD65
Variant:p.L306fs

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.L306fs
c.916_917fs
Surrounding Variants
1 paper
NM_001145210.3
p.L306delFs
c.916delG
1 paper
NM_001145210.3
p.H308H
c.924C>T
1 paper
NM_001145210.3
p.R311W
c.931C>T
1 paper
NM_001145210.3
p.R311L
c.932G>T
1 paper
NM_001145210.3
p.E294Q
c.880G>C
1 paper
NM_001145210.3
p.T290A
c.868A>G
1 paper
NM_001243535.2
p.W108*
c.323G>A
1 paper
NM_001145210.3
p.R335*
c.1003C>T
1 paper
NM_001145210.3
p.D266N
c.796G>A
1 paper
NM_001145210.3
p.S360G
c.1078A>G
1 paper
NM_001145210.3
p.T362N
c.1085C>A
1 paper
NM_001145210.3
p.R364W
c.1090C>T
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