Varaico: Literature-Extracted Genetic Variants

Gene:ANKAR
Variant:p.Q128H

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
2 papers
NM_001378068.1
p.Q128H
c.384G>T
Surrounding Variants
2 papers
NM_001378068.1
p.Q128H
c.384G>C
1 paper
NM_001378068.1
p.S119F
c.356C>T
1 paper
NM_001378068.1
p.E106K
c.316G>A
1 paper
NM_001378068.1
p.M163V
c.487A>G
1 paper
NM_001378068.1
p.S81S
c.243C>T
1 paper
NM_001378068.1
p.R176S
c.526C>A
1 paper
NM_001378068.1
p.R176C
c.526C>T
1 paper
NM_001378068.1
p.D180E
c.540C>A
1 paper
NM_001378068.1
p.D180E
c.540C>G
1 paper
NM_001378068.1
p.K186T
c.557A>C
3 papers
NM_001378068.1
p.K191T
c.572A>C
1 paper
NM_001378068.1
p.R62C
c.184C>T
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