Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD33
Variant:p.E446A

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.E446A
c.1337A>C
Surrounding Variants
1 paper
NM_182608.4
p.R441K
c.1322G>A
1 paper
NM_182608.4
p.R437M
c.1310G>T
1 paper
NM_182608.4
p.R432*
c.1294C>T
1 paper
NM_182608.4
p.P429L
c.1286C>T
1 paper
NM_182608.4
p.Q415H
c.1245G>C
1 paper
NM_182608.4
p.Q415H
c.1245G>T
1 paper
NM_182608.4
p.P359R
c.1076C>G
1 paper
NM_182608.4
p.V342G
c.1025T>G
1 paper
NM_182608.4
p.L327V
c.979C>G
2 papers
NM_182608.4
p.T313N
c.938C>A
1 paper
NM_182608.4
p.T313_S317del5
c.937_950del15
1 paper
NM_182608.4
p.V304I
c.910G>A
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