Varaico: Literature-Extracted Genetic Variants

Gene:NAGPA
Variant:p.A439V

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
1 paper
NM_016256.4
p.A439V
c.1316C>T
Surrounding Variants
2 papers
NM_016256.4
p.G440A
c.1319G>C
1 paper
NM_016256.4
p.R447G
c.1339A>G
1 paper
NM_016256.4
p.S422C
c.1264A>T
1 paper
NM_016256.4
p.E392Splc
c.1174+53C>A
1 paper
NM_016256.4
p.C380G
c.1138T>G
1 paper
NM_016256.4
p.C378F
c.1133G>T
1 paper
NM_016256.4
p.T376Splc
c.1126+38C>A
1 paper
NM_016256.4
p.G371fs
c.1111_1112fs
1 paper
NM_016256.4
p.G371insFs
c.1112_1113insC
1 paper
NM_016256.4
p.G371*
c.1111G>T
1 paper
NM_016256.4
p.G354S
c.1060G>A
7 papers
NM_016256.4
p.R328C
c.982C>T
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