Varaico: Literature-Extracted Genetic Variants

Gene:ANKRA2
Variant:p.K31R

ANKRA2

22 papers

Pfam Domains

Ankaa 181–213UCSCAnkyrin repeat
Ank_2aa 209–278UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat family A member 2

HGNC Previous Name

ankyrin repeat, family A (RFXANK-like), 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_023039.5
p.K31R
c.92A>G
Surrounding Variants
1 paper
NM_023039.5
p.T25A
c.73A>G
1 paper
NM_023039.5
p.Q46R
c.137A>G
1 paper
NM_023039.5
p.Q83R
c.248A>G
1 paper
NM_023039.5
p.L156F
c.468G>T
1 paper
NM_023039.5
p.L156F
c.468G>C
1 paper
NM_023039.5
p.R168C
c.502C>T
1 paper
NM_023039.5
p.N176S
c.527A>G
1 paper
NM_023039.5
p.E181_G182del1
c.542_544delCTT
1 paper
NM_023039.5
p.V239I
c.715G>A
1 paper
NM_023039.5
p.P251L
c.752C>T
1 paper
NM_023039.5
p.V264I
c.790G>A
1 paper
NM_023039.5
p.E269Splc
c.805+1G>T
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