Varaico: Literature-Extracted Genetic Variants

Gene:CD33
Variant:p.Y116H

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.Y116H
c.346T>C
Surrounding Variants
1 paper
NM_001772.4
p.G114V
c.341G>T
1 paper
NM_001772.4
p.F118delins
c.353_354delinsAA
1 paper
NM_001772.4
p.F118Fs
c.354delinsAAFs
1 paper
NM_001772.4
p.R111W
c.331A>T
1 paper
NM_001772.4
p.E121*
c.361G>T
2 papers
NM_001772.4
p.R110_Y116delFs
c.330_348del19
1 paper
NM_001772.4
p.R122K
c.365G>A
1 paper
NM_001772.4
p.A108V
c.323C>T
1 paper
NM_001772.4
p.K126I
c.377A>T
1 paper
NM_001772.4
p.Y127*
c.381C>A
1 paper
NM_001772.4
p.Y127*
c.381C>G
2 papers
NM_001772.4
p.K130N
c.390A>C
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