Varaico: Literature-Extracted Genetic Variants

Gene:NAGPA
Variant:p.R328C

NAGPA

55 papers

RefSeq Summary

Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the m...

Pfam Domains

NAGPAaa 130–325UCSCPhosphodiester glycosidase

Gene Aliases

HGNC Name

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

HGNC Alias Symbols

APAA; UCE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_016256.4
p.R328C
c.982C>T
Surrounding Variants
1 paper
NM_016256.4
p.C323Y
c.968G>A
1 paper
NM_016256.4
p.V322A
c.965T>C
1 paper
NM_016256.4
p.V321L
c.961G>T
1 paper
NM_016256.4
p.V321L
c.961G>C
1 paper
NM_016256.4
p.T320T
c.960C>T
1 paper
NM_016256.4
p.T320A
c.958A>G
1 paper
NM_016256.4
p.V318A
c.953T>C
1 paper
NM_016256.4
p.V318E
c.953T>A
1 paper
NM_016256.4
p.P315L
c.944C>T
1 paper
NM_016256.4
p.G354S
c.1060G>A
1 paper
NM_016256.4
p.G371*
c.1111G>T
1 paper
NM_016256.4
p.G371insFs
c.1112_1113insC
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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."