Varaico: Literature-Extracted Genetic Variants

Gene:ST6GAL1
Variant:p.F243I

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.F243I
c.727T>A
Surrounding Variants
1 paper
NM_173216.2
p.F243S
c.728T>C
2 papers
NM_173216.2
p.S247N
c.740G>A
1 paper
NM_173216.2
p.S247T
c.740G>C
1 paper
NM_173216.2
p.Y262C
c.785A>G
1 paper
NM_173216.2
p.P267S
c.799C>T
1 paper
NM_173216.2
p.D274Y
c.820G>T
1 paper
NM_173216.2
p.Y281H
c.841T>C
1 paper
NM_173216.2
p.H288L
c.863A>T
1 paper
NM_173216.2
p.Q291R
c.872A>G
1 paper
NM_173216.2
p.K297E
c.889A>G
1 paper
NM_173216.2
p.P298S
c.892C>T
1 paper
NM_173216.2
p.E314G
c.941A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."