Varaico: Literature-Extracted Genetic Variants

Gene:ENGASE
Variant:p.R43P

ENGASE

62 papers

RefSeq Summary

This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012].

Pfam Domains

Glyco_hydro_85aa 135–412UCSCGlycosyl hydrolase family 85
Ig_ENGASE1_Caa 612–740UCSCENGASE1-like, C-terminal immunoglobulin-like domain

Gene Aliases

HGNC Name

endo-beta-N-acetylglucosaminidase

HGNC Alias Symbol

FLJ21865

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001042573.3
p.R43P
c.128G>C
Surrounding Variants
1 paper
NM_001042573.3
p.R18del1
c.52_53delCGG
2 papers
NM_001042573.3
p.A5E
c.14C>A
1 paper
NM_001042573.3
p.P69L
c.206C>T
1 paper
NM_001042573.3
p.L87W
c.260T>G
1 paper
NM_001042573.3
p.L94L
c.282G>A
1 paper
NM_001042573.3
p.L100*
c.299T>A
1 paper
NM_001042573.3
p.V106V
c.318G>A
1 paper
NM_001042573.3
p.E109E
c.327G>A
1 paper
NM_001042573.3
p.P110R
c.329C>G
1 paper
NM_001042573.3
p.R114H
c.341G>A
1 paper
NM_001042573.3
p.R124Q
c.371G>A
1 paper
NM_001042573.3
p.D137E
c.411T>A
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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."