Varaico: Literature-Extracted Genetic Variants

Gene:CD33
Variant:p.I242L

CD33

388 papers

Pfam Domains

V-setaa 24–139UCSCImmunoglobulin V-set domain
V-setaa 24–139UCSCImmunoglobulin V-set domain
igaa 149–225UCSCImmunoglobulin domain
igaa 149–225UCSCImmunoglobulin domain
SIGLECL1_Caa 249–308UCSCSIGLEC family-like protein 1 C-terminal domain

Gene Aliases

HGNC Name

CD33 molecule

HGNC Alias Symbols

SIGLEC-3; p67; FLJ00391; CD33rSiglec

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001772.4
p.I242L
c.724A>C
Surrounding Variants
3 papers
NM_001772.4
p.F243L
c.727T>C
3 papers
NM_001772.4
p.F243L
c.729T>A
3 papers
NM_001772.4
p.F243L
c.729T>G
1 paper
NM_001772.4
p.T240A
c.718A>G
1 paper
NM_001772.4
p.T239K
c.716C>A
1 paper
NM_001772.4
p.P238fs
c.712_713fs
3 papers
NM_001772.4
p.P238fs
c.712_713fs
3 papers
NM_001772.4
p.N237_F243delFs
c.711_729del19
4 papers
NM_001772.4
p.N237fs
c.709_710fs
1 paper
NM_001772.4
p.Q236K
c.706C>A
1 paper
NM_001772.4
p.S248*
c.743C>A
1 paper
NM_001772.4
p.S248*
c.743C>G
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