Varaico: Literature-Extracted Genetic Variants

Gene:ANKDD1A

ANKDD1A

42 papers

Pfam Domains

Ank_2aa 19–121UCSCAnkyrin repeats (3 copies)
Ank_2aa 95–189UCSCAnkyrin repeats (3 copies)
Ank_2aa 163–255UCSCAnkyrin repeats (3 copies)
Ank_2aa 237–321UCSCAnkyrin repeats (3 copies)
Ank_2aa 302–384UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat and death domain containing 1A

HGNC Alias Symbol

FLJ25870

Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
2 papers
NM_182703.6
p.K355E
c.1063A>G
2 papers
NM_182703.6
p.L516L
c.1548T>C
1 paper
NM_182703.6
p.A6T
c.16G>A
1 paper
NM_182703.6
p.E8V
c.23A>T
1 paper
NM_182703.6
p.L12Splc
c.34+1G>C
1 paper
NM_182703.6
p.A23T
c.67G>A
1 paper
NM_182703.6
p.Q25R
c.74A>G
1 paper
NM_182703.6
p.V39D
c.116T>A
1 paper
NM_182703.6
p.H46H
c.138C>T
1 paper
NM_182703.6
p.A56A
c.168A>T
1 paper
NM_182703.6
p.G59A
c.176G>C
1 paper
NM_182703.6
p.E69D
c.207G>C
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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."