Varaico: Literature-Extracted Genetic Variants

Gene:ST3GAL3
Variant:p.D112V

ST3GAL3

69 papers

RefSeq Summary

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found...

Pfam Domains

Glyco_transf_29aa 93–342UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST3 beta-galactoside alpha-2,3-sialyltransferase 3

HGNC Previous Symbols

SIAT6; MRT12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006279.5
p.D112V
c.335A>T
Surrounding Variants
1 paper
NM_006279.5
p.P107insFs
c.320_321insA
3 papers
NM_006279.5
p.F102fs
c.304_305fs
1 paper
NM_006279.5
p.V124M
c.370G>A
1 paper
NM_006279.5
p.N134insFs
c.401dupA
1 paper
NM_006279.5
p.N134fs
c.400_401fs
1 paper
NM_006279.5
p.K144_E145ins4
c.430_434ins12
1 paper
NM_006279.5
p.K144_E145ins5
c.430_434ins15
1 paper
NM_006279.5
p.E145_Y146insT
c.433_437ins3
1 paper
NM_006279.5
p.A151V
c.452C>T
1 paper
NM_006279.5
p.L155_R158del0
c.464_472del9
1 paper
NM_006279.5
p.G175E
c.524G>A
1 paper
NM_174963.5
p.R255Splc
c.765-1G>A
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