Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD33
Variant:p.V28del1

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
Selected Variant
1 paper
NM_182608.4
p.V28del1
c.82_83delGTG
Surrounding Variants
1 paper
NM_182608.4
p.I27T
c.80T>C
1 paper
NM_182608.4
p.I27F
c.79A>T
1 paper
NM_182608.4
p.P25L
c.74C>T
1 paper
NM_182608.4
p.P25S
c.73C>T
3 papers
NM_182608.4
p.R30R
c.90C>T
1 paper
NM_182608.4
p.A32V
c.95C>T
1 paper
NM_182608.4
p.I42T
c.125T>C
1 paper
NM_182608.4
p.V10delFs
c.28delG
1 paper
NM_182608.4
p.R46R
c.138A>T
1 paper
NM_182608.4
p.T47S
c.140C>G
1 paper
NM_182608.4
p.P48R
c.143C>G
2 papers
NM_182608.4
p.L76ins2
c.227_228ins6
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