Varaico: Literature-Extracted Genetic Variants

Gene:MAN1B1
Variant:p.F660F

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.F660F
c.1980C>T
Surrounding Variants
4 papers
NM_016219.5
p.F659C
c.1976T>G
1 paper
NM_016219.5
p.E663K
c.1987G>A
1 paper
NM_016219.5
p.S658delFs
c.1973_1974delGC
1 paper
NM_016219.5
p.T664M
c.1991C>T
1 paper
NM_016219.5
p.M656R
c.1967T>G
1 paper
NM_016219.5
p.L671F
c.2011C>T
2 papers
NM_016219.5
p.Q648*
c.1942C>T
2 papers
NM_016219.5
p.D674N
c.2020G>A
1 paper
NM_016219.5
p.A683T
c.2047G>A
1 paper
NM_016219.5
p.G636V
c.1907G>T
2 papers
NM_016219.5
p.G636_G637delFs
c.1907_1911del5
1 paper
NM_016219.5
p.F686F
c.2058C>T
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