Varaico: Literature-Extracted Genetic Variants

Gene:ANKAR
Variant:p.E947K

ANKAR

99 papers

Pfam Domains

Ank_2aa 502–600UCSCAnkyrin repeats (3 copies)
Ank_2aa 584–669UCSCAnkyrin repeats (3 copies)
Armaa 731–771UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

ankyrin and armadillo repeat containing

HGNC Alias Symbol

FLJ25415

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001378068.1
p.E947K
c.2839G>A
Surrounding Variants
2 papers
NM_001378068.1
p.T951_Y953delFs
c.2853_2857del5
1 paper
NM_001378068.1
p.G918G
c.2754G>A
1 paper
NM_001378068.1
p.A914G
c.2741C>G
1 paper
NM_001378068.1
p.A914T
c.2740G>A
1 paper
NM_001378068.1
p.D901Y
c.2701G>T
1 paper
NM_001378068.1
p.Q900E
c.2698C>G
1 paper
NM_001378068.1
p.Q983K
c.2947C>A
1 paper
NM_001378068.1
p.Q984K
c.2950C>A
2 papers
NM_001378068.1
p.M1007delFs
c.3019delA
1 paper
NM_001378068.1
p.V1015A
c.3044T>C
4 papers
NM_001378068.1
p.K1020_D1021delFs
c.3058_3061del4
1 paper
NM_001378068.1
p.K1020fs
c.3058_3059fs
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