Varaico: Literature-Extracted Genetic Variants

Gene:NAGPA
Variant:p.T465I

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
2 papers
NM_016256.4
p.T465I
c.1394C>T
Surrounding Variants
1 paper
NM_016256.4
p.R481H
c.1442G>A
1 paper
NM_016256.4
p.R447G
c.1339A>G
1 paper
NM_016256.4
p.E493A
c.1478A>C
1 paper
NM_016256.4
p.N495N
c.1485C>T
1 paper
NM_016256.4
p.E502K
c.1504G>A
1 paper
NM_016256.4
p.R447G
c.1339A>G
2 papers
NM_016256.4
p.G440A
c.1319G>C
1 paper
NM_016256.4
p.A439V
c.1316C>T
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
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