Varaico: Literature-Extracted Genetic Variants

Gene:ST6GALNAC2
Variant:p.K62_G63Splc

ST6GALNAC2

34 papers

RefSeq Summary

ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substra...

Pfam Domains

Glyco_transf_29aa 91–368UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2

HGNC Previous Symbols

SIAT7; SIAT7B; SIATL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006456.3
p.K62_G63Splc
c.186+2T>C
Surrounding Variants
2 papers
NM_006456.3
p.K62_G63Splc
c.186+12G>A
1 paper
NM_006456.3
p.D43H
c.127G>C
1 paper
NM_006456.3
p.G63D
c.188G>A
1 paper
NM_006456.3
p.L83L
c.249G>A
1 paper
NM_006456.3
p.W114L
c.341G>T
2 papers
NM_006456.3
p.R115W
c.343C>T
1 paper
NM_006456.3
p.R142S
c.426G>T
1 paper
NM_006456.3
p.R142S
c.426G>C
1 paper
NM_006456.3
p.R150insFs
c.449_450ins4
1 paper
NM_006456.3
p.R150_C151insFs
c.450_451ins4
1 paper
NM_006456.3
p.R164H
c.491G>A
1 paper
NM_006456.3
p.D189N
c.565G>A
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