Varaico: Literature-Extracted Genetic Variants

Gene:NANS
Variant:p.R41C

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.R41C
c.121C>T
Surrounding Variants
1 paper
NM_018946.4
p.I40I
c.120C>T
1 paper
NM_018946.4
p.I40insFs
c.120dupC
1 paper
NM_018946.4
p.M42L
c.124A>C
1 paper
NM_018946.4
p.M42L
c.124A>T
2 papers
NM_018946.4
p.M42T
c.125T>C
1 paper
NM_018946.4
p.K44_E45insFs
c.132_133ins10
1 paper
NM_018946.4
p.V35I
c.103G>A
1 paper
NM_018946.4
p.D32H
c.94G>C
2 papers
NM_018946.4
p.G31fs
c.91_92fs
2 papers
NM_018946.4
p.G31delFs
c.92delG
2 papers
NM_018946.4
p.Q30*
c.88C>T
3 papers
NM_018946.4
p.H29N
c.85C>A
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