Varaico: Literature-Extracted Genetic Variants

Gene:ST6GAL1
Variant:p.E342K

ST6GAL1

74 papers

RefSeq Summary

This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing s...

Pfam Domains

Glyco_transf_29aa 146–386UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST6 beta-galactoside alpha-2,6-sialyltransferase 1

HGNC Previous Symbol

SIAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173216.2
p.E342K
c.1024G>A
Surrounding Variants
1 paper
NM_173216.2
p.E342A
c.1025A>C
1 paper
NM_173216.2
p.E342G
c.1025A>G
1 paper
NM_173216.2
p.F343S
c.1028T>C
1 paper
NM_173216.2
p.D339N
c.1015G>A
1 paper
NM_173216.2
p.K347E
c.1039A>G
1 paper
NM_173216.2
p.R348G
c.1042C>G
1 paper
NM_173216.2
p.V352E
c.1055T>A
2 papers
NM_173216.2
p.Y354D
c.1060T>G
2 papers
NM_173216.2
p.Y355N
c.1063T>A
1 paper
NM_173216.2
p.I328N
c.983T>A
1 paper
NM_173216.2
p.D361G
c.1082A>G
1 paper
NM_173216.2
p.D361E
c.1083T>A
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