Varaico: Literature-Extracted Genetic Variants

Gene:MAN1B1
Variant:p.A683T

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
1 paper
NM_016219.5
p.A683T
c.2047G>A
Surrounding Variants
1 paper
NM_016219.5
p.F686F
c.2058C>T
1 paper
NM_016219.5
p.T688A
c.2062A>G
4 papers
NM_016219.5
p.E689K
c.2065G>A
5 papers
NM_016219.5
p.E689*
c.2065G>T
1 paper
NM_016219.5
p.H691R
c.2072A>G
2 papers
NM_016219.5
p.D674N
c.2020G>A
1 paper
NM_016219.5
p.L671F
c.2011C>T
1 paper
NM_016219.5
p.T697A
c.2089A>G
1 paper
NM_016219.5
p.*700W
c.2099A>G
1 paper
NM_016219.5
p.T664M
c.1991C>T
1 paper
NM_016219.5
p.E663K
c.1987G>A
1 paper
NM_016219.5
p.F660F
c.1980C>T
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