Varaico: Literature-Extracted Genetic Variants

Gene:ST3GAL1
Variant:p.H63Q

ST3GAL1

39 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 85–333UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST3 beta-galactoside alpha-2,3-sialyltransferase 1

HGNC Previous Symbol

SIAT4A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173344.3
p.H63Q
c.189C>A
Surrounding Variants
1 paper
NM_173344.3
p.H63Q
c.189C>G
1 paper
NM_173344.3
p.T60A
c.178A>G
1 paper
NM_173344.3
p.R57insFs
c.171dupG
1 paper
NM_173344.3
p.H56Y
c.166C>T
1 paper
NM_173344.3
p.S71S
c.213G>C
1 paper
NM_173344.3
p.D75N
c.223G>A
1 paper
NM_173344.3
p.N79D
c.235A>G
1 paper
NM_173344.3
p.S47S
c.141C>T
1 paper
NM_173344.3
p.P84P
c.252G>A
1 paper
NM_173344.3
p.T87P
c.259A>C
1 paper
NM_173344.3
p.A88T
c.262G>A
1 paper
NM_173344.3
p.P39S
c.115C>T
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