Varaico: Literature-Extracted Genetic Variants

Gene:ST6GALNAC1
Variant:p.P67L

ST6GALNAC1

48 papers

RefSeq Summary

Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc)...

Pfam Domains

Glyco_transf_29aa 304–584UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1

HGNC Previous Symbol

SIAT7A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018414.5
p.P67L
c.200C>T
Surrounding Variants
1 paper
NM_018414.5
p.A70A
c.210A>G
1 paper
NM_018414.5
p.T74T
c.222C>T
1 paper
NM_018414.5
p.Y76*
c.228T>G
1 paper
NM_018414.5
p.Y76*
c.228T>A
2 papers
NM_018414.5
p.V80A
c.239T>C
1 paper
NM_018414.5
p.N83_N84delins
c.249_251delinsACA
1 paper
NM_018414.5
p.R47S
c.139C>A
1 paper
NM_018414.5
p.Q89fs
c.265_266fs
1 paper
NM_018414.5
p.Q89insFs
c.265_266dupCA
1 paper
NM_018414.5
p.Q91*
c.271C>T
1 paper
NM_018414.5
p.G98R
c.292G>C
1 paper
NM_018414.5
p.G98R
c.292G>A
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