Varaico: Literature-Extracted Genetic Variants

Gene:CD33
Variant:p.S131A

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.S131A
c.391T>G
Surrounding Variants
2 papers
NM_001772.4
p.K130N
c.390A>C
2 papers
NM_001772.4
p.K130N
c.390A>T
1 paper
NM_001772.4
p.Q133insFs
c.398_399dupAG
1 paper
NM_001772.4
p.Y127*
c.381C>A
1 paper
NM_001772.4
p.Y127*
c.381C>G
1 paper
NM_001772.4
p.L134P
c.401T>C
2 papers
NM_001772.4
p.L134R
c.401T>G
1 paper
NM_001772.4
p.K126I
c.377A>T
1 paper
NM_001772.4
p.R122K
c.365G>A
1 paper
NM_001772.4
p.D140N
c.418G>A
3 papers
NM_001772.4
p.D140Splc
c.418+1G>A
1 paper
NM_001772.4
p.E121*
c.361G>T
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