Varaico: Literature-Extracted Genetic Variants

Gene:ENGASE
Variant:p.R450M

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.R450M
c.1349G>T
Surrounding Variants
1 paper
NM_001042573.3
p.E438A
c.1313A>C
1 paper
NM_001042573.3
p.E438Q
c.1312G>C
1 paper
NM_001042573.3
p.S463T
c.1388G>C
1 paper
NM_001042573.3
p.V467I
c.1399G>A
1 paper
NM_001042573.3
p.R468R
c.1402C>A
1 paper
NM_001042573.3
p.E431D
c.1293G>C
1 paper
NM_001042573.3
p.E431D
c.1293G>T
1 paper
NM_001042573.3
p.P473A
c.1417C>G
1 paper
NM_001042573.3
p.V478G
c.1433T>G
1 paper
NM_001042573.3
p.V421V
c.1263A>G
1 paper
NM_001042573.3
p.R411Q
c.1232G>A
1 paper
NM_001042573.3
p.I395M
c.1185C>G
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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."