Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD6
Variant:p.Q288fs

ANKRD6

68 papers

Pfam Domains

Ank_2aa 11–72UCSCAnkyrin repeats (3 copies)
Ank_2aa 65–138UCSCAnkyrin repeats (3 copies)
Ank_2aa 134–204UCSCAnkyrin repeats (3 copies)
Ank_2aa 196–267UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 6

HGNC Alias Symbol

KIAA0957

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001242809.2
p.Q288fs
c.862_863fs
Surrounding Variants
1 paper
NM_001242809.2
p.Q288delFs
c.863_864delAG
1 paper
NM_001242809.2
p.A287_Q288insFs
c.861_862ins5
1 paper
NM_001242809.2
p.Q288Q
c.864G>A
1 paper
NM_001242809.2
p.A296T
c.886G>A
1 paper
NM_001242809.2
p.K277insFs
c.829_830insGA
1 paper
NM_001242809.2
p.K299K
c.897G>A
2 papers
NM_001242809.2
p.R270H
c.809G>A
1 paper
NM_001242809.2
p.S303A
c.907T>G
1 paper
NM_001242809.2
p.S310R
c.928A>C
1 paper
NM_001242809.2
p.S310R
c.930T>A
1 paper
NM_001242809.2
p.S310R
c.930T>G
1 paper
NM_001242809.2
p.F324L
c.970T>C
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