Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD6
Variant:p.R13H

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
2 papers
NM_001242809.2
p.R13H
c.38G>A
Surrounding Variants
1 paper
NM_001242809.2
p.T23fs
c.67_68fs
1 paper
NM_001242809.2
p.Q28*
c.82C>T
1 paper
NM_001242809.2
p.K40_H41Splc
c.120+6056C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."