Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD33

ANKRD33

41 papers

Pfam Domains

Ank_2aa 99–197UCSCAnkyrin repeats (3 copies)
Ank_2aa 99–197UCSCAnkyrin repeats (3 copies)
Ank_2aa 152–218UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 33

HGNC Alias Symbols

DKFZp686O1689; PANKY

Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
3 papers
NM_182608.4
p.R30R
c.90C>T
3 papers
NM_182608.4
p.Y140F
c.419A>T
2 papers
NM_182608.4
p.L76ins2
c.227_228ins6
2 papers
NM_182608.4
p.R199Q
c.596G>A
2 papers
NM_182608.4
p.A227_L228ins6
c.679_683ins18
2 papers
NM_182608.4
p.A277_V279ins1
c.830_835dup6
2 papers
NM_182608.4
p.T313N
c.938C>A
1 paper
NM_182608.4
p.V10delFs
c.28delG
1 paper
NM_182608.4
p.P25S
c.73C>T
1 paper
NM_182608.4
p.P25L
c.74C>T
1 paper
NM_182608.4
p.I27F
c.79A>T
1 paper
NM_182608.4
p.I27T
c.80T>C
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