Varaico: Literature-Extracted Genetic Variants

Gene:MAN1B1
Variant:p.W621*

MAN1B1

160 papers

RefSeq Summary

This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc ...

Pfam Domains

Glyco_hydro_47aa 256–695UCSCGlycosyl hydrolase family 47

Gene Aliases

HGNC Name

mannosidase alpha class 1B member 1

HGNC Alias Symbols

MANA-ER; MRT15; ERManI; ERMan1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_016219.5
p.W621*
c.1863G>A
Surrounding Variants
5 papers
NM_016219.5
p.W621*
c.1862G>A
5 papers
NM_016219.5
p.Q617*
c.1849C>T
1 paper
NM_016219.5
p.R614H
c.1841G>A
4 papers
NM_016219.5
p.D613fs
c.1837_1838fs
4 papers
NM_016219.5
p.D613delFs
c.1837delG
3 papers
NM_016219.5
p.T611_G612delFs
c.1833_1834delAG
1 paper
NM_016219.5
p.T611fs
c.1831_1832fs
3 papers
NM_016219.5
p.T611del1
c.1831_1832delACA
1 paper
NM_016219.5
p.R609C
c.1825C>T
1 paper
NM_016219.5
p.R632_V633Splc
c.1896+22G>A
1 paper
NM_016219.5
p.V601M
c.1801G>A
2 papers
NM_016219.5
p.E599A
c.1796A>C
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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."