Varaico: Literature-Extracted Genetic Variants

Gene:ANKEF1
Variant:p.G412E

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
Selected Variant
2 papers
NM_022096.6
p.G412E
c.1235G>A
Surrounding Variants
1 paper
NM_022096.6
p.S405F
c.1214C>T
1 paper
NM_022096.6
p.T399S
c.1196C>G
1 paper
NM_022096.6
p.T399S
c.1195A>T
1 paper
NM_022096.6
p.R446Q
c.1337G>A
1 paper
NM_022096.6
p.F359F
c.1077C>T
2 papers
NM_022096.6
p.S355G
c.1063A>G
1 paper
NM_022096.6
p.G352A
c.1055G>C
1 paper
NM_022096.6
p.D351N
c.1051G>A
2 papers
NM_022096.6
p.P477L
c.1430C>T
1 paper
NM_022096.6
p.A326A
c.978C>T
2 papers
NM_022096.6
p.L324Q
c.971T>A
1 paper
NM_022096.6
p.A506S
c.1516G>T
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