Varaico: Literature-Extracted Genetic Variants

Gene:ANKEF1
Variant:p.G48G

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
1 paper
NM_022096.6
p.G48G
c.144A>G
Surrounding Variants
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.V64F
c.190G>T
1 paper
NM_022096.6
p.D24N
c.70G>A
1 paper
NM_022096.6
p.D24H
c.70G>C
2 papers
NM_022096.6
p.P74T
c.220C>A
1 paper
NM_022096.6
p.D75N
c.223G>A
1 paper
NM_022096.6
p.S96S
c.288A>G
1 paper
NM_022096.6
p.D106N
c.316G>A
1 paper
NM_022096.6
p.M107V
c.319A>G
1 paper
NM_022096.6
p.D111G
c.332A>G
1 paper
NM_022096.6
p.A135T
c.403G>A
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