Varaico: Literature-Extracted Genetic Variants

Gene:NANS
Variant:p.Y188H

NANS

122 papers

RefSeq Summary

This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to gen...

Pfam Domains

NeuBaa 39–278UCSCNeuB family
SAFaa 292–350UCSCSAF domain

Gene Aliases

HGNC Name

N-acetylneuraminate synthase

HGNC Alias Symbol

SAS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_018946.4
p.Y188H
c.562T>C
Surrounding Variants
1 paper
NM_018946.4
p.Y188C
c.563A>G
3 papers
NM_018946.4
p.P189L
c.566C>T
1 paper
NM_018946.4
p.V195A
c.584T>C
1 paper
NM_018946.4
p.L175I
c.523C>A
1 paper
NM_018946.4
p.S201A
c.601T>G
1 paper
NM_018946.4
p.P174L
c.521C>T
3 papers
NM_018946.4
p.S201S
c.603G>A
1 paper
NM_018946.4
p.I171T
c.512T>C
1 paper
NM_018946.4
p.K166R
c.497A>G
1 paper
NM_018946.4
p.M165T
c.494T>C
1 paper
NM_018946.4
p.S156C
c.467C>G
5 papers
NM_018946.4
p.R151H
c.452G>A
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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."