Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD22
Variant:p.R119*

ANKRD22

21 papers

Pfam Domains

Ank_2aa 9–95UCSCAnkyrin repeats (3 copies)
Ank_2aa 103–165UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 22

HGNC Alias Symbol

MGC22805

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144590.3
p.R119*
c.355C>T
Surrounding Variants
1 paper
NM_144590.3
p.R119Q
c.356G>A
1 paper
NM_144590.3
p.E115*
c.343G>T
1 paper
NM_144590.3
p.E115K
c.343G>A
1 paper
NM_144590.3
p.N114_E115ins1
c.342_343insCAG
1 paper
NM_144590.3
p.G125G
c.375C>T
1 paper
NM_144590.3
p.E127K
c.379G>A
1 paper
NM_144590.3
p.E127G
c.380A>G
1 paper
NM_144590.3
p.K110R
c.329A>G
1 paper
NM_144590.3
p.S109*
c.326C>G
1 paper
NM_144590.3
p.S109*
c.326C>A
1 paper
NM_144590.3
p.M107I
c.321G>T
1 paper
NM_144590.3
p.M107I
c.321G>C
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