Varaico: Literature-Extracted Genetic Variants

Gene:NANS
Variant:p.A260delFs

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.A260delFs
c.780delC
Surrounding Variants
2 papers
NM_018946.4
p.L254L
c.760C>T
1 paper
NM_018946.4
p.S253L
c.758C>T
1 paper
NM_018946.4
p.H250Y
c.748C>T
1 paper
NM_018946.4
p.G247delFs
c.740delG
2 papers
NM_018946.4
p.W245*
c.735G>A
2 papers
NM_018946.4
p.W245*
c.734G>A
1 paper
NM_018946.4
p.T244T
c.732C>A
2 papers
NM_018946.4
p.R237H
c.710G>A
6 papers
NM_018946.4
p.R237C
c.709C>T
1 paper
NM_018946.4
p.E236K
c.706G>A
1 paper
NM_018946.4
p.V234M
c.700G>A
1 paper
NM_018946.4
p.A286insFs
c.857dupC
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