Varaico: Literature-Extracted Genetic Variants

Gene:ANKEF1
Variant:p.A532S

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.A532S
c.1594G>T
Surrounding Variants
1 paper
NM_022096.6
p.K542insFs
c.1624dupA
1 paper
NM_022096.6
p.D522Y
c.1564G>T
1 paper
NM_022096.6
p.K547K
c.1641A>G
1 paper
NM_022096.6
p.S514L
c.1541C>T
1 paper
NM_022096.6
p.A506S
c.1516G>T
2 papers
NM_022096.6
p.P477L
c.1430C>T
1 paper
NM_022096.6
p.R446Q
c.1337G>A
2 papers
NM_022096.6
p.G412E
c.1235G>A
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.F359F
c.1077C>T
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