Varaico: Literature-Extracted Genetic Variants

Gene:ANKEF1

ANKEF1

55 papers

Pfam Domains

Ank_2aa 16–111UCSCAnkyrin repeats (3 copies)
Ank_2aa 153–247UCSCAnkyrin repeats (3 copies)
Ank_2aa 153–247UCSCAnkyrin repeats (3 copies)
Ank_2aa 214–281UCSCAnkyrin repeats (3 copies)
Ank_2aa 214–281UCSCAnkyrin repeats (3 copies)
Ank_2aa 496–588UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat and EF-hand domain containing 1

HGNC Alias Symbols

FLJ21669; dJ839B4.6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
2 papers
NM_022096.6
p.P74T
c.220C>A
2 papers
NM_022096.6
p.L324Q
c.971T>A
2 papers
NM_022096.6
p.S355G
c.1063A>G
2 papers
NM_022096.6
p.G412E
c.1235G>A
2 papers
NM_022096.6
p.P477L
c.1430C>T
2 papers
NM_022096.6
p.A532S
c.1594G>T
1 paper
NM_022096.6
p.D24N
c.70G>A
1 paper
NM_022096.6
p.D24H
c.70G>C
1 paper
NM_022096.6
p.Y36*
c.108C>A
1 paper
NM_022096.6
p.Y36*
c.108C>G
1 paper
NM_022096.6
p.G48G
c.144A>G
1 paper
NM_022096.6
p.V64F
c.190G>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."