Varaico: Literature-Extracted Genetic Variants

Gene:NANS
Variant:p.E4E

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.E4E
c.12G>A
Surrounding Variants
1 paper
NM_018946.4
p.L3_E6delFs
c.9_16del8
1 paper
NM_018946.4
p.E6V
c.17A>T
2 papers
NM_018946.4
p.P2delins
c.5delinsATGG
1 paper
NM_018946.4
p.M1insFs
c.2dupT
1 paper
NM_018946.4
p.M1V
c.1A>G
1 paper
NM_018946.4
p.P9_Q16del8
c.25_47del24
2 papers
NM_018946.4
p.M1insFs
c.1dupA
1 paper
NM_018946.4
p.R11R
c.33C>T
1 paper
NM_018946.4
p.W12R
c.34T>A
1 paper
NM_018946.4
p.W12G
c.34T>G
1 paper
NM_018946.4
p.H17Y
c.49C>T
1 paper
NM_018946.4
p.P18L
c.53C>T
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