Varaico: Literature-Extracted Genetic Variants

Gene:NANS
Variant:p.I221M

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
1 paper
NM_018946.4
p.I221M
c.663A>G
Surrounding Variants
1 paper
NM_018946.4
p.A222T
c.664G>A
1 paper
NM_018946.4
p.A222V
c.665C>T
2 papers
NM_018946.4
p.I223T
c.668T>C
2 papers
NM_018946.4
p.A227T
c.679G>A
1 paper
NM_018946.4
p.I210V
c.628A>G
1 paper
NM_018946.4
p.V234M
c.700G>A
1 paper
NM_018946.4
p.E236K
c.706G>A
6 papers
NM_018946.4
p.R237C
c.709C>T
2 papers
NM_018946.4
p.R237H
c.710G>A
2 papers
NM_018946.4
p.Y203H
c.607T>C
1 paper
NM_018946.4
p.T244T
c.732C>A
2 papers
NM_018946.4
p.W245*
c.734G>A
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."