Varaico: Literature-Extracted Genetic Variants

Gene:ENGASE
Variant:p.D343N

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.D343N
c.1027G>A
Surrounding Variants
2 papers
NM_001042573.3
p.F342F
c.1026C>T
1 paper
NM_001042573.3
p.R321H
c.962G>A
1 paper
NM_001042573.3
p.H310H
c.930C>T
1 paper
NM_001042573.3
p.R307W
c.919C>T
1 paper
NM_001042573.3
p.W306fs
c.916_917fs
1 paper
NM_001042573.3
p.W306delFs
c.917delG
1 paper
NM_001042573.3
p.K346_S347Splc
c.1039-2A>G
1 paper
NM_001042573.3
p.R352*
c.1054C>T
1 paper
NM_001042573.3
p.G355D
c.1064G>A
1 paper
NM_001042573.3
p.L286P
c.857T>C
1 paper
NM_001042573.3
p.E285K
c.853G>A
1 paper
NM_001042573.3
p.S357F
c.1070C>T
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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."