Varaico: Literature-Extracted Genetic Variants

Gene:NANS
Variant:p.T308_M309insFs

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
2 papers
NM_018946.4
p.T308_M309insFs
c.922_925dup4
Surrounding Variants
2 papers
NM_018946.4
p.M309fs
c.925_926fs
1 paper
NM_018946.4
p.T305T
c.915C>T
1 paper
NM_018946.4
p.E318K
c.952G>A
1 paper
NM_018946.4
p.G321_Y322ins0
c.961_966dup6
1 paper
NM_018946.4
p.S294P
c.880T>C
4 papers
NM_018946.4
p.I327ins0
c.979_981dupATC
1 paper
NM_018946.4
p.I327M
c.981C>G
1 paper
NM_018946.4
p.L330L
c.988C>T
1 paper
NM_018946.4
p.D343H
c.1027G>C
1 paper
NM_018946.4
p.I345V
c.1033A>G
1 paper
NM_018946.4
p.S359A
c.1075T>G
1 paper
NM_018946.4
p.A286insFs
c.857dupC
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