Varaico: Literature-Extracted Genetic Variants

Gene:NANS
Variant:p.G133V

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
3 papers
NM_018946.4
p.G133V
c.398G>T
Surrounding Variants
1 paper
NM_018946.4
p.V132_G133ins10
c.394_398ins30
1 paper
NM_018946.4
p.K131Q
c.391A>C
2 papers
NM_018946.4
p.K131fs
c.391_392fs
2 papers
NM_018946.4
p.F130insFs
c.389dupT
1 paper
NM_018946.4
p.H123Y
c.367C>T
3 papers
NM_018946.4
p.A147D
c.440C>A
3 papers
NM_018946.4
p.M117I
c.351G>A
2 papers
NM_018946.4
p.M117I
c.351G>C
2 papers
NM_018946.4
p.M117I
c.351G>T
4 papers
NM_018946.4
p.G150Splc
c.448+1G>A
5 papers
NM_018946.4
p.R151H
c.452G>A
1 paper
NM_018946.4
p.S156C
c.467C>G
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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."