Varaico: Literature-Extracted Genetic Variants

Gene:ENGASE
Variant:p.E203K

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.E203K
c.607G>A
Surrounding Variants
1 paper
NM_001042573.3
p.R200fs
c.598_599fs
1 paper
NM_001042573.3
p.R200insFs
c.598dupA
1 paper
NM_001042573.3
p.Q225R
c.674A>G
1 paper
NM_001042573.3
p.V187M
c.559G>A
1 paper
NM_001042573.3
p.T177S
c.530C>G
1 paper
NM_001042573.3
p.T177S
c.529A>T
1 paper
NM_001042573.3
p.T148A
c.442A>G
1 paper
NM_001042573.3
p.G278A
c.833G>C
1 paper
NM_001042573.3
p.Q279K
c.835C>A
1 paper
NM_001042573.3
p.L280V
c.838C>G
1 paper
NM_001042573.3
p.L280P
c.839T>C
1 paper
NM_001042573.3
p.E285K
c.853G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."